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: PA2499276166

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1060748

ClinVar RCV Id: RCV001370216 RCV004037460

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asp400Asn	CA10599656 NM_007300.4:c.1198G>A