PR:000000351	serine/threonine-protein kinase receptor R3 sequence variant R479L (human)	hACVRL1/var:R479L|serine/threonine-protein kinase receptor R3 sequence variant 40 (human)|UniProtKB:P37023, Arg-479, CHEBI:30006		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			PMID:15024723	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_026813	20080301	PRO:CNA