ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829588718
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451929
ClinVar RCV Id:
RCV000531870
RCV000727190
RCV001274363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Arg481Gln
CA5056479
NM_005476.7:c.1442G>A