Canonical Allele Identifier: PA2573183217
Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1497411
ClinVar RCV Id: RCV002019426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121699.1:p.Gly514Arg
CA373426838
NM_001128227.3:c.1540G>C
CA373426841
NM_001128227.3:c.1540G>A