Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2499276227

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1209888

ClinVar RCV Id: RCV001579388 RCV003158906

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_009231.2:p.Ile548Ser