ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996937
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233482
ClinVar RCV Id:
RCV000215763
RCV000637517
RCV002267966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser573Leu
CA10580654
NM_007300.4:c.1718C>T