" /> COL5A1 wt Allele - CISMeF





Preferred Label : COL5A1 wt Allele;

NCIt synonyms : EDSC; EDSCL1; Collagen, Type V, Alpha 1 Gene; Collagen Type V Alpha 1 Chain wt Allele; Collagen, Type V, Alpha-1 Gene;

NCIt definition : Human COL5A1 wild-type allele is located in the vicinity of 9q34.3 and is approximately 203 kb in length. This allele, which encodes collagen alpha-1(V) chain protein, is involved in connective tissue development. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 1.;

NCI Metathesaurus CUI : CL1643236;

GenBank Accession Number : D90279;

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31/07/2025


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