ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487065
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417197
RCV001011505
RCV003539821
ClinVar Variation:
235886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Val474Ile
CA16044157
NM_006231.4:c.1420G>A