ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253692
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6028
ClinVar RCV Id:
RCV000202424
RCV000255973
RCV000763616
RCV001167212
RCV003415667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Val727Met
CA253688
NM_001128227.3:c.2179G>A