thr385fs - Robuta Search

https://www.ncbi.nlm.nih.gov/clinvar/RCV004574837/ NM_022132.5(MCCC2):c.1154del (p.Thr385fs) AND 3-methylcrotonyl-CoA carboxylase 2 deficiency -... ClinVar archives and aggregates information about relationships among variation and human health.