ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829588709
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1399940
ClinVar RCV Id:
RCV001917933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Arg477His
CA5056481
NM_005476.7:c.1430G>A