ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573249030
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1502854
ClinVar RCV Id:
RCV003773340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Lys280Arg
CA246299122
NM_006231.4:c.839A>G