PR:000000330	serine/threonine-protein kinase receptor R3 sequence variant L337P (human)	hACVRL1/var:L337P|serine/threonine-protein kinase receptor R3 sequence variant 21 (human)|UniProtKB:P37023, Leu-337, CHEBI:50342		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			PMID:15024723	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_026797	20080301	PRO:CNA