PR:000000338 hACVRL1/var:D397G UniProtKB:P37023, Asp-397, CHEBI:29947 | serine/threonine-protein kinase receptor R3 sequence variant 29 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Gly residue at the position equivalent to Asp-397 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-397, CHEBI:29947." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |