ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829701048
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077594
RCV000163799
RCV001284299
RCV001357130
RCV001378925
ClinVar Variation:
55392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Cys593Arg
CA003228
NM_007298.3:c.1777T>C