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: PA915992957

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55156

ClinVar RCV Id: RCV000112306 RCV000131530 RCV000174360 RCV000679697 RCV001084565

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.His318Tyr	CA002739 NM_007299.4:c.952C>T