PR:000000322 serine/threonine-protein kinase receptor R3 sequence variant K229R (human) hACVRL1/var:K229R|serine/threonine-protein kinase receptor R3 sequence variant 14 (human)|UniProtKB:P37023, Lys-229, CHEBI:29952 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026791 20080301 PRO:CNA