PR:000000337 hACVRL1/var:M376R UniProtKB:P37023, Met-376, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 28 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:29952." [PMID:8640225, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:8640225 |