PR:000000326 serine/threonine-protein kinase receptor R3 sequence variant A306P (human) hACVRL1/var:A306P|serine/threonine-protein kinase receptor R3 sequence variant 18 (human)|UniProtKB:P37023, Ala-306, CHEBI:50342 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026795 20080301 PRO:CNA