ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550591
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432211
ClinVar RCV Id:
RCV003131054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Gly494Glu
CA373425927
NM_001374797.1:c.1481G>A