ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108675
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000033144
RCV000484685
RCV000570294
RCV000762892
RCV001420787
ClinVar Variation:
40046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Leu424Val
CA130722
NM_006231.4:c.1270C>G