ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550113
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498387
ClinVar RCV Id:
RCV000597462
RCV000726827
RCV002476292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Ile247Thr
CA5056641
NM_001374797.1:c.740T>C