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Cortexa research tool·genomics·clingen_allele
ClinGenAllele Lookup Hgvs
Look up a genetic variant by HGVS expression in the ClinGen Allele Registry to get its canonical allele identifier (CA ID) and cross-references to ClinVar, dbSNP, COSMIC, gnomAD, and other databases. Accepts genomic (NC_*), coding (NM_*), or protein (NP_*) HGVS expressions.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 12 lines · 306 chars
Examples (1)
Default ClinGenAllele Lookup Hgvs 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_ClinGenAllele_lookup_hgvs
- Tool name
- ClinGenAllele_lookup_hgvs
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse