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: PA913197525

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 631225

ClinVar RCV Id: RCV000777392

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Gln1420His	CA10593201 NM_007294.4:c.4260G>T CA10593202 NM_007294.4:c.4260G>C