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: PA1139728999

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 845696

ClinVar RCV Id: RCV001048811 RCV003158350

ClinVar Variation Id: 1172310

ClinVar RCV Id: RCV001526082 RCV001873688

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Glu402Asp	CA10599638 NM_007300.4:c.1206G>T CA10599639 NM_007300.4:c.1206G>C