ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573253353
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1513251
ClinVar RCV Id:
RCV002026079
RCV002331625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Gln292Glu
CA10593358
NM_007299.4:c.874C>G