Canonical Allele Identifier: PA2828550617
Gene: GNE HGNC NCBI

Linked Data

ClinVar Variation Id: 288129
ClinVar RCV Id: RCV000305422 RCV000672432 RCV001004544 RCV002222477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361726.1:p.Gly508Arg
CA5056438
NM_001374797.1:c.1522G>A
CA373425791
NM_001374797.1:c.1522G>C