ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645423787
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281291
ClinVar RCV Id:
RCV000344814
RCV001208464
RCV001833307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Arg366Trp
CA5056603
NM_001128227.3:c.1096C>T