ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253680
Gene: GNE
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121699.1:p.Met743Thr
NM_001128227.3:c.2228T>C