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: PA915997079

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 141263

ClinVar RCV Id: RCV000129702 RCV000240694 RCV000637530 RCV000587810 RCV001818302 RCV002288627 RCV003607243

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Lys608del	CA001178 NM_007300.4:c.1819A>T CA353755 NM_007300.4:c.1824_1826del CA10598372 NM_007300.4:c.1822A>T CA2514747508 NM_007300.4:c.1818_1820del