Canonical Allele Identifier: PA1139712298
Gene: KHK HGNC NCBI

Linked Data

ClinVar Variation Id: 896717
ClinVar RCV Id: RCV001139568

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006479.1:p.Met63Ile
CA1569124
NM_006488.3:c.189G>A
CA346158587
NM_006488.3:c.189G>T
CA346158590
NM_006488.3:c.189G>C