ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999157
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54787
ClinVar RCV Id:
RCV000077539
RCV000509657
RCV000587239
RCV001325551
RCV001328036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1057Gly
CA002065
NM_007300.4:c.3169A>G