Canonical Allele Identifier: PA658815278
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 506404
ClinVar RCV Id: RCV001704703

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006222.2:p.Phe569Leu
CA246292977
NM_006231.4:c.1707C>G
CA387356382
NM_006231.4:c.1707C>A
CA387356387
NM_006231.4:c.1705T>C