ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829587980
Gene: GNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Glu40Lys
CA373421728
NM_005476.7:c.118G>A