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: PA2829721985

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2121231

ClinVar RCV Id: RCV003027937 RCV003157917

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asn1255Asp	CA10594448 NM_007300.4:c.3763A>G