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Cortexa research tool·genomics·clingen_ar
ClinGenAR Lookup Allele
Look up a genetic variant in the ClinGen Allele Registry by HGVS notation. Returns the canonical allele identifier (CA ID), community standard title, and cross-references to ClinVar, dbSNP, COSMIC, gnomAD, and other databases. The Allele Registry normalizes variant representations across different coordinate systems and nomenclatures. Example: 'NM_000546.6:c.743G>A' returns CA000387 (TP53 p.Arg248Gln) with links to ClinVar, COSMIC, and gnomAD.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 12 lines · 351 chars
Examples (1)
Default ClinGenAR Lookup Allele call
public-safeinput
JSON · 3 lines · 16 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_ClinGenAR_lookup_allele
- Tool name
- ClinGenAR_lookup_allele
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse