PR:000000323 hACVRL1/var:D254del UniProtKB:P37023, 22-253, 255-503 | serine/threonine-protein kinase receptor R3 sequence variant 15 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Asp-254 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-253, 255-503." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
UniProtKB_VAR:VAR_026793 |