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: PA658665934

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 462552

ClinVar RCV Id: RCV000547374 RCV003157683

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Glu402Val	CA10599640 NM_007294.4:c.1205A>T