Canonical Allele Identifier: PA2573257167
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464112
ClinVar RCV Id: RCV001975362 RCV003156916
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.Ser1330Arg
CA10593982
NM_007300.4:c.3990C>G
CA10593983
NM_007300.4:c.3990C>A
CA10593988
NM_007300.4:c.3988A>C