ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580150860
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2062352
ClinVar RCV Id:
RCV002923555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Arg512Trp
CA5056480
NM_001128227.3:c.1534C>T