PR:000000320 hACVRL1/var:S233del UniProtKB:P37023, 22-232, 234-503 | serine/threonine-protein kinase receptor R3 sequence variant 12 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Ser-233 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-232, 234-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_026792 |