PR:000000360 hACVRL1/var:G211D UniProtKB:P37023, Gly-211, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 9 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Gly-211 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-211, CHEBI:29958." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |