ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485799
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405687
ClinVar RCV Id:
RCV000476907
RCV001284215
RCV000563876
RCV000826023
RCV002480361
RCV004533156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.His144Arg
CA6894316
NM_006231.4:c.431A>G