ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708395
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55392
ClinVar RCV Id:
RCV000077594
RCV000163799
RCV001378925
RCV001284299
RCV001357130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Cys1718Arg
CA003228
NM_007300.4:c.5152T>C