PR:000000332	serine/threonine-protein kinase receptor R3 sequence variant A347P (human)	hACVRL1/var:A347P|serine/threonine-protein kinase receptor R3 sequence variant 23 (human)|UniProtKB:P37023, Ala-347, CHEBI:50342		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			PMID:15024723	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_026799	20080301	PRO:CNA