PR:000000348 serine/threonine-protein kinase receptor R3 sequence variant F425V (human) hACVRL1/var:F425V|serine/threonine-protein kinase receptor R3 sequence variant 38 (human)|UniProtKB:P37023, Phe-425, CHEBI:30015 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15712270 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026811 20080301 PRO:CNA