ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580150920
Gene: GNE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.His585Tyr
CA5056442
NM_001128227.3:c.1753C>T