ClinGen Allele Registry
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Canonical Allele Identifier:
PA915996897
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54328
ClinVar RCV Id:
RCV000111667
RCV000129818
RCV000479365
RCV001364082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro568Arg
CA001116
NM_007300.4:c.1703C>G