PR:000000332 hACVRL1/var:A347P UniProtKB:P37023, Ala-347, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 23 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Ala-347 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-347, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |