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: PA2829683176

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686511

ClinVar RCV Id: RCV002247024

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Lys1452Glu	CA10593014 NM_007294.4:c.4354A>G