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: PA658819821

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531230

ClinVar RCV Id: RCV000637378 RCV001525444 RCV004003841

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Gly401Arg	CA10599647 NM_007294.4:c.1201G>C CA10599648 NM_007294.4:c.1201G>A