PR:000000357 hACVRL1/var:C77W UniProtKB:P37023, Cys-77, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 6 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Cys-77 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-77, CHEBI:29954." [PMID:10694922, PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10694922; PMID:14684682 |