ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267954
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54618
ClinVar RCV Id:
RCV000111902
RCV001301252
RCV002433538
RCV003441733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro871Gln
CA001718
NM_007294.4:c.2612C>A