Canonical Allele Identifier: PA2828549997
Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2052862
ClinVar RCV Id: RCV002937767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361726.1:p.Cys183Ser
CA373418196
NM_001374797.1:c.548G>C
CA373418200
NM_001374797.1:c.547T>A