ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658679611
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000565508
RCV001800790
RCV002483535
ClinVar Variation:
484551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Asp319Asn
CA6894132
NM_006231.4:c.955G>A