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: PA1139711630

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 865469

ClinVar RCV Id: RCV001072895

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Val700Phe	CA10590644 NM_007298.3:c.2098G>T