ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826158776
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2171412
ClinVar RCV Id:
RCV003086902
RCV003269456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177317.2:p.His495Tyr
CA5056442
NM_001190388.2:c.1483C>T