PR:000000325	serine/threonine-protein kinase receptor R3 sequence variant L285F (human)	hACVRL1/var:L285F|serine/threonine-protein kinase receptor R3 sequence variant 17 (human)|UniProtKB:P37023, Leu-285, CHEBI:29997		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			PMID:15024723	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_026794	20080301	PRO:CNA