ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580340089
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099731
ClinVar RCV Id:
RCV003308431
RCV003658567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Glu591Lys
CA387356253
NM_006231.4:c.1771G>A