PR:000000342 serine/threonine-protein kinase receptor R3 sequence variant E407D (human) hACVRL1/var:E407D|serine/threonine-protein kinase receptor R3 sequence variant 32 (human)|UniProtKB:P37023, Glu-407, CHEBI:29958 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10767348|PMID:15712270 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026807 20080301 PRO:CNA