ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487698
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405886
ClinVar RCV Id:
RCV000471957
RCV000760025
RCV001269354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Ala1885Thr
CA6892452
NM_006231.4:c.5653G>A