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ClinGen Allele Registry

ClinGen Allele Registry (CAR) provides canonical CAids for supported versioned RefSeq HGVS identities. BioMCP preserves source facts and bounded aliases; it does not infer equivalence, register alleles, or assign clinical meaning.

CAR accepts only versioned NM_...:c. and NC_...:g. identifiers. Its output keeps provider cardinality visible when aliases are bounded. External IDs retain the combined pre-cap distinct dbSNP and ClinVar count, and report truncation when either source exceeds its eight-ID rendering cap. A malformed provider response is reported as incomplete rather than a conclusive lookup result.

What BioMCP exposes

  • variant normalize car <HGVS> looks up one versioned RefSeq transcript coding or genomic HGVS value.
  • variant normalize car --input <path|-> accepts a JSON array of 1-50 values.
  • Typed MCP variant_normalize_car accepts the same bounded values in memory.

Example commands

biomcp --json variant normalize car 'NM_000546.6:c.215C>G'

Retrieve a source-provided CAid and bounded aliases for one transcript HGVS.

biomcp --json variant normalize car --input car-hgvs.json

Retrieve an ordered bounded batch from a bare JSON array.

printf '["NM_000546.6:c.215C>G"]' | biomcp --json variant normalize car --input -

Read the same bounded JSON array from standard input.

API access

No BioMCP API key required.

Official source