PR:000000339	serine/threonine-protein kinase receptor R3 sequence variant C51Y (human)	hACVRL1/var:C51Y|serine/threonine-protein kinase receptor R3 sequence variant 3 (human)|UniProtKB:P37023, Cys-51, CHEBI:46858		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			PMID:11170071	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_006205	20080301	PRO:CNA