ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997092
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187705
ClinVar RCV Id:
RCV000167455
RCV000473402
RCV001283892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg613Lys
CA001198
NM_007300.4:c.1838G>A