ClinGen Allele Registry
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Canonical Allele Identifier:
PA915994342
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55482
ClinVar RCV Id:
RCV000112580
RCV000567938
RCV001378200
RCV001811343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Arg647Pro
CA003392
NM_007299.4:c.1940G>C