ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828550368
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499709
ClinVar RCV Id:
RCV000594865
RCV000673098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361726.1:p.Tyr383Cys
CA373427973
NM_001374797.1:c.1148A>G