ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277855
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218297
ClinVar RCV Id:
RCV000202427
RCV000255797
RCV000627756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Val247Ala
CA277854
NM_001128227.3:c.740T>C