ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828549968
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290196
ClinVar RCV Id:
RCV000597478
RCV000594398
RCV001214147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Arg162Cys
CA5056722
NM_001374797.1:c.484C>T