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DESCRIBE <http://purl.uniprot.org/SHA-384/592D27735C48BE098AA3BABA276119CAE4EDDD8FC85EE5A9BDB549FD87BA13151CBDD47C77DF93812DFBC380418C6AFA>
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http://purl.uniprot.org/SHA-384/592D27735C48BE098AA3BABA276119CAE4EDDD8FC85EE5A9BDB549FD87BA13151CBDD47C77DF93812DFBC380418C6AFA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/592D27735C48BE098AA3BABA276119CAE4EDDD8FC85EE5A9BDB549FD87BA13151CBDD47C77DF93812DFBC380418C6AFA
http://www.w3.org/2000/01/rdf-schema#comment
"three siblings of congenital disorder of glycosylation type 1a are compound heterozygotes for R141H and L32R mutations in the PMM2 gene."
xsd:string
http://purl.uniprot.org/uniprot/#_A4063EF501F78EA00CD5C16E223D9E6E238CD7878D60E1A37B828FD9F17006A4A2E4EEF3732D4B0F4F6D9D9A6C1C252D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/592D27735C48BE098AA3BABA276119CAE4EDDD8FC85EE5A9BDB549FD87BA13151CBDD47C77DF93812DFBC380418C6AFA
http://purl.uniprot.org/uniprot/B7Z922
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/592D27735C48BE098AA3BABA276119CAE4EDDD8FC85EE5A9BDB549FD87BA13151CBDD47C77DF93812DFBC380418C6AFA
http://purl.uniprot.org/uniprot/#_B7Z922-mappedCitation-17451957
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/592D27735C48BE098AA3BABA276119CAE4EDDD8FC85EE5A9BDB549FD87BA13151CBDD47C77DF93812DFBC380418C6AFA