ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826468193
Gene: EFTUD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1717627
ClinVar RCV Id:
RCV002296508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245282.1:p.Lys63Arg
CA399826501
NM_001258353.2:c.188A>G