ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000092
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246072
ClinVar RCV Id:
RCV000236428
RCV002519825
RCV003157490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Cys1251Tyr
CA10584559
NM_007300.4:c.3752G>A