PR:000000356 serine/threonine-protein kinase receptor R3 sequence variant R67W (human) hACVRL1/var:R67W|serine/threonine-protein kinase receptor R3 sequence variant 5 (human)|UniProtKB:P37023, Arg-67, CHEBI:29954 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15712270 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026786 20080301 PRO:CNA