Canonical Allele Identifier: PA2829588725
Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 627242
ClinVar RCV Id: RCV000852033
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005467.1:p.Leu486Pro
CA5056478
NM_005476.7:c.1457T>C