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: PA658667355

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 462629

ClinVar RCV Id: RCV000544160 RCV000565791 RCV001284396 RCV001821530

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Thr1349Arg	CA10593867 NM_007294.4:c.4046C>G