Preferred Label : NF1 Protein Variant;
NCIt synonyms : Neurofibromatosis-Related Protein NF-1 Protein Variant; Neurofibromin Protein Variant;
NCIt definition : A variation in the amino acid sequence for the neurofibromin protein.;
NCI Metathesaurus CUI : CL972050;
Origin ID : C167058;
UMLS CUI : C5238227;
- Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene