ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645423913
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288683
ClinVar RCV Id:
RCV000282876
RCV001828255
RCV002521996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Ile588Thr
CA10606187
NM_001128227.3:c.1763T>C