Preferred Label : TP53 NM_000546.5:c.817C A; 
NCIt synonyms : Tumor Protein p53 c.817C A; TP53 c.817C A; LFS1 c.817C A; NM_000546.5:c.817C A; Li-Fraumeni Syndrome c.817C A; P53 c.817C A; 
NCIt definition : A nucleotide substitution at position 817 of the coding sequence of the TP53 gene
               where cytosine has been mutated to adenine.; 
NCI Metathesaurus CUI : CL978821; 
SNP ID : rs121913343; 
         
         
            Origin ID : C165580; 
UMLS CUI : C5237287; 
 Semantic type(s) Semantic type(s)
 molecular_abnormality_involves_gene molecular_abnormality_involves_gene