ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487750
Gene: POLE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405704
ClinVar RCV Id:
RCV000476996
RCV000709240
RCV000765044
RCV000995008
RCV003151773
RCV003321601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Arg2149Cys
CA6892177
NM_006231.4:c.6445C>T