Canonical Allele Identifier: PA2829688415
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187050
ClinVar RCV Id: RCV000166736 RCV000411948 RCV001204055
ClinVar Variation Id: 489706
ClinVar RCV Id: RCV000579597 RCV001071973 RCV004001240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009228.2:p.Ser330Arg
CA000757
NM_007297.4:c.990C>A
CA10599795
NM_007297.4:c.990C>G
CA10599800
NM_007297.4:c.988A>C