Canonical Allele Identifier: PA2499238718
Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1203461
ClinVar RCV Id: RCV001569498 RCV001827498 RCV002570772 RCV003416398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121699.1:p.Arg508Cys
CA5056482
NM_001128227.3:c.1522C>T