ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580340060
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721666
ClinVar RCV Id:
RCV003658060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Arg579Leu
CA387356326
NM_006231.4:c.1736G>T