ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829699167
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54192
ClinVar RCV Id:
RCV000577049
RCV001077010
RCV001385108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Cys44Arg
CA000855
NM_007298.3:c.130T>C