Canonical Allele Identifier: PA2499273061
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 1056930
ClinVar RCV Id: RCV003771115
ClinVar Variation Id: 1939038
ClinVar RCV Id: RCV003776739

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006222.2:p.Asp490Glu
CA387358051
NM_006231.4:c.1470C>G
CA387358053
NM_006231.4:c.1470C>A