ClinGen Allele Registry
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Canonical Allele Identifier:
PA915995536
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55689
ClinVar RCV Id:
RCV000049120
RCV000112781
RCV000129300
RCV000283401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg252His
CA003849
NM_007300.4:c.755G>A