ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829709892
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577049
RCV001077010
RCV001385108
ClinVar Variation:
54192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Cys44Arg
CA000855
NM_007299.4:c.130T>C