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: PA165514

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141466

ClinVar RCV Id: RCV000130000 RCV001298276

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Asp366Val	CA000733 NM_007294.4:c.1097A>T