ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828551126
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41233
ClinVar RCV Id:
RCV000343796
RCV000726858
RCV001060883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Asp117Val
CA344238
NM_001374798.1:c.350A>T