ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253684
Gene: GNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001177313.1:p.Ala521Thr
NM_001190384.3:c.1561G>A