PR:000000338 serine/threonine-protein kinase receptor R3 sequence variant D397G (human) hACVRL1/var:D397G|serine/threonine-protein kinase receptor R3 sequence variant 29 (human)|UniProtKB:P37023, Asp-397, CHEBI:29947 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026804 20080301 PRO:CNA