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: PA2829707718

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 865029

ClinVar RCV Id: RCV001072357

ClinVar Variation Id: 865030

ClinVar RCV Id: RCV001072358 RCV001176713

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Trp614Arg	CA10591242 NM_007298.3:c.1840T>C CA10591243 NM_007298.3:c.1840T>A