ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274076
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188882
ClinVar RCV Id:
RCV000366480
RCV000591867
RCV000763618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Ile618Thr
CA274075
NM_001128227.3:c.1853T>C