" /> ACVRL1 wt Allele - CISMeF





Preferred Label : ACVRL1 wt Allele;

NCIt synonyms : Activin Receptor-Like Kinase 1 Gene; HHT; ORW2; ALK1; ACVRL1; SKR3; ALK-1; HHT2; ACVRLK1; Activin A Receptor, Type II-Like Kinase 1 wt Allele;

NCIt definition : Human ACVRL1 wild-type allele is located within 12q11-q14 and is approximately 14 kb in length. This allele, which encodes serine/threonine-protein kinase receptor R3 protein, is involved in receptor signal transduction. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2, which is also also known as Rendu-Osler-Weber syndrome 2.;

GenBank Accession Number : NM_000020;

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30/07/2025


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