ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996611
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246451
ClinVar RCV Id:
RCV000235392
RCV002392734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys505Arg
CA10584572
NM_007300.4:c.1514A>G