PR:000000346 hACVRL1/var:P424T UniProtKB:P37023, Pro-424, CHEBI:30013 | serine/threonine-protein kinase receptor R3 sequence variant 36 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Thr residue at the position equivalent to Pro-424 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-424, CHEBI:30013." [PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:9245985 |