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: PA268178

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55079

ClinVar RCV Id: RCV000112228 RCV001348287 RCV003584530

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Glu1346del	CA002574 NM_007294.4:c.4036_4038del CA10589702 NM_007294.4:c.4033G>T CA10593886 NM_007294.4:c.4036G>T