PR:000000355	serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human)	hACVRL1/var:GA48/49EP|serine/threonine-protein kinase receptor R3 sequence variant 44 (human)|UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217		associated_with_disease_progression	DOID:1270	hereditary hemorrhagic telangiectasia			UniProtKB_VAR:VAR_026784	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_026784	20080301	PRO:CNA