ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999799
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112126
RCV000218622
RCV001301253
RCV002460902
ClinVar Variation:
54925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1196Lys
CA002287
NM_007300.4:c.3587C>A