Preferred Label : SMO NP_005622.1:p.E518K;
NCIt synonyms : SMO NP_005622.1:p.Gln518Lys; NP_005622.1:p.E518K; Protein Gx E518K; Smoothened Homolog Gln518Lys; Protein Smoothened E518K; SMOH E518K; SMO E518K; SMO p.E518K; NP_005622.1:p.Gln518Lys; Protein Gx Gln518Lys; Smoothened Homolog E518K; SMOH Gln518Lys; Protein Smoothened Gln518Lys; SMO Gln518Lys; SMO p.Gln518Lys;
NCIt definition : A change in amino acid residue at position 518 in protein smoothened where glutamic
acid has been replaced by arginine.;
NCI Metathesaurus CUI : CL1927324;
Origin ID : C205228;
concept_is_in_subset
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene