ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486859
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000484768
RCV000694747
RCV002258931
ClinVar Variation:
421572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Arg446Trp
CA6894002
NM_006231.4:c.1336C>T