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: PA2829711397

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423044

ClinVar RCV Id: RCV000480419 RCV000692105 RCV000775939 RCV001078024

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Ser1862Thr	CA10590275 NM_007300.4:c.5585G>C