PR:000000335 hACVRL1/var:P378L UniProtKB:P37023, Pro-378, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 26 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Pro-378 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-378, CHEBI:30006." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |