ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA348617
Gene: POLE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Ala1712Val
CA348615
NM_006231.4:c.5135C>T