PR:000000358 serine/threonine-protein kinase receptor R3 sequence variant N96D (human) hACVRL1/var:N96D|serine/threonine-protein kinase receptor R3 sequence variant 7 (human)|UniProtKB:P37023, Asn-96, CHEBI:29958 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:10694922 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_006208 20080301 PRO:CNA