ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828549899
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1714260
ClinVar RCV Id:
RCV002304328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Leu117Pro
CA373419286
NM_001374797.1:c.350T>C