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DESCRIBE <http://purl.uniprot.org/SHA-384/2343BF5C0C6E9AF20E7BE66E787EB10107C389BDB12C5FBFCFB076B9C6A64B30174C2E9795C1E593464C970DACC87A95>
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http://purl.uniprot.org/SHA-384/2343BF5C0C6E9AF20E7BE66E787EB10107C389BDB12C5FBFCFB076B9C6A64B30174C2E9795C1E593464C970DACC87A95
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2343BF5C0C6E9AF20E7BE66E787EB10107C389BDB12C5FBFCFB076B9C6A64B30174C2E9795C1E593464C970DACC87A95
http://www.w3.org/2000/01/rdf-schema#comment
"The nonsens mutation 536G>A in the EXT2 is the disease-causing mutation in a family with hereditary multiple exostoses."
xsd:string
http://purl.uniprot.org/uniprot/#_AA6A7450B2AC629A7E9E24C8D7A601F9219DCF548F628483637C6401ADB0284B9DEED4B51468A6AE117C24D20475FD6D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2343BF5C0C6E9AF20E7BE66E787EB10107C389BDB12C5FBFCFB076B9C6A64B30174C2E9795C1E593464C970DACC87A95
http://purl.uniprot.org/uniprot/Q6NUL1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2343BF5C0C6E9AF20E7BE66E787EB10107C389BDB12C5FBFCFB076B9C6A64B30174C2E9795C1E593464C970DACC87A95
http://purl.uniprot.org/uniprot/#_Q6NUL1-mappedCitation-20140877
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2343BF5C0C6E9AF20E7BE66E787EB10107C389BDB12C5FBFCFB076B9C6A64B30174C2E9795C1E593464C970DACC87A95