PR:000000401 TGF-beta 1 sequence variant R218H (human) hTGFB1/var:R218H|TGF-beta 1 sequence variant 4 (human)|UniProtKB:P01137, Arg-218, CHEBI:29979 associated_with_disease_progression DOID:4997 Camurati-Engelmann disease PMID:12493741 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017607 20080301 PRO:CNA