Canonical Allele Identifier: PA2828551518
Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 6033
ClinVar RCV Id: RCV000006404 RCV000724160 RCV001217981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361727.1:p.Val513Leu
CA274932
NM_001374798.1:c.1537G>C
CA373425687
NM_001374798.1:c.1537G>T