ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729402
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
928010
ClinVar RCV Id:
RCV001191658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys459Gln
CA10599295
NM_007300.4:c.1375A>C