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: PA2829695839

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868860

ClinVar RCV Id: RCV001077846

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Val1599Leu	CA10591653 NM_007297.4:c.4795G>C