PR:000000317 hACVRL1/var:G48R UniProtKB:P37023, Gly-48, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 1 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Gly-48 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |