Canonical Allele Identifier: PA253713
Gene: GNE HGNC NCBI
ClinVar RCV:
RCV000006405
ClinVar Variation:
6034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001177313.1:p.Cys193Val
CA253712
NM_001190384.3:c.577_578delinsGT