Gene: LDLR
Coding Change (c.): c.1201C>G
Protein Change (p.): p.Leu401Val
ClinVar Name: NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
ClinVar Number: 161267
Variant Forum: Familial Hypercholesterolemia Support Group (Genetic High Cholesterol)