Canonical Allele Identifier: PA916000181
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 91615
ClinVar RCV Id: RCV000077132 RCV003157398
ClinVar Variation Id: 230616
ClinVar RCV Id: RCV000220403 RCV001857765 RCV003477722 RCV003997852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.Ser1266Arg
CA002447
NM_007300.4:c.3798C>G
CA10580550
NM_007300.4:c.3798C>A
CA10594377
NM_007300.4:c.3796A>C