ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487176
Gene: POLE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Ala724Val
CA6893662
NM_006231.4:c.2171C>T