ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663297
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_001121699.1:p.Arg512Gln
CA5056479
NM_001128227.3:c.1535G>A