ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891856766
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571244
ClinVar RCV Id:
RCV000692338
RCV000709251
RCV002343463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Gln1763Arg
CA387376134
NM_006231.4:c.5288A>G