PR:000000319 hACVRL1/var:H222del UniProtKB:P37023, 22-221, 223-503 | serine/threonine-protein kinase receptor R3 sequence variant 11 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to His-222 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-221, 223-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_006209 |