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: PA2829718392

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2842763

ClinVar RCV Id: RCV003644524

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Pro364Ala	CA10599878 NM_007300.4:c.1090C>G