PR:000000318 hACVRL1/var:E215K UniProtKB:P37023, Glu-215, CHEBI:29967 | serine/threonine-protein kinase receptor R3 sequence variant 10 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Lys residue at the position equivalent to Glu-215 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-215, CHEBI:29967." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |