ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915968198
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001010654
RCV003656158
ClinVar Variation:
818751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Leu424Phe
CA6894020
NM_006231.4:c.1270C>T