ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268103
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54925
ClinVar RCV Id:
RCV000112126
RCV000218622
RCV001301253
RCV002460902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1196Lys
CA002287
NM_007294.4:c.3587C>A