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: PA2829694725

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55194

ClinVar RCV Id: RCV000112334 RCV000132050

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Pro1422Ser	CA002828 NM_007297.4:c.4264C>T