ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828551428
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2147906
ClinVar RCV Id:
RCV003068581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361727.1:p.Ile413Val
CA373426998
NM_001374798.1:c.1237A>G