ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829716566
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
868903
ClinVar RCV Id:
RCV001077894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Asp687Val
CA10590509
NM_007299.4:c.2060A>T