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: PA2573256750

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444399

ClinVar RCV Id: RCV001982395 RCV003156888

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.His1141Gln	CA10595132 NM_007300.4:c.3423T>G CA10595133 NM_007300.4:c.3423T>A