ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487787
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240620
ClinVar RCV Id:
RCV002500795
RCV003324736
RCV004529409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Gly2266Ser
CA6891960
NM_006231.4:c.6796G>A