ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103140
Gene: GNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005467.1:p.Met712Thr
NM_005476.7:c.2135T>C