ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487655
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486309
ClinVar Variation:
405627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Ser1827Leu
CA6892513
NM_006231.4:c.5480C>T