ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828549994
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
913582
ClinVar RCV Id:
RCV001167278
RCV001167279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Arg177His
CA5056715
NM_001374797.1:c.530G>A