ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826158556
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_001177317.2:p.Ile239Thr
CA5056641
NM_001190388.2:c.716T>C