PR:000000327	serine/threonine-protein kinase receptor R3 sequence variant H314Y (human)	hACVRL1/var:H314Y|serine/threonine-protein kinase receptor R3 sequence variant 19 (human)|UniProtKB:P37023, His-314, CHEBI:46858		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			PMID:15024723	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_026796	20080301	PRO:CNA