ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487165
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240422
ClinVar RCV Id:
RCV000424622
RCV000514900
RCV000569482
RCV001083123
RCV001358149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Pro697Ser
CA6893687
NM_006231.4:c.2089C>T