PR:000000330 hACVRL1/var:L337P UniProtKB:P37023, Leu-337, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 21 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Leu-337 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-337, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |