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DESCRIBE <http://purl.uniprot.org/SHA-384/09A70AE5E6DE0576E456F6CB02871A7E25B0A4CAE589704DE72C6051A17F41EE34BF374B8F10FCF90044D297276A2D62>
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http://purl.uniprot.org/SHA-384/09A70AE5E6DE0576E456F6CB02871A7E25B0A4CAE589704DE72C6051A17F41EE34BF374B8F10FCF90044D297276A2D62
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/09A70AE5E6DE0576E456F6CB02871A7E25B0A4CAE589704DE72C6051A17F41EE34BF374B8F10FCF90044D297276A2D62
http://www.w3.org/2000/01/rdf-schema#comment
"CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype."
xsd:string
http://purl.uniprot.org/uniprot/#_A7DAEDC903D0037DBAE2FED60DE65C9C5810F0182D0FF0A90FE9C839796F09DEC9C77FECE2F7DA84FF5361AEEA60A35E
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/09A70AE5E6DE0576E456F6CB02871A7E25B0A4CAE589704DE72C6051A17F41EE34BF374B8F10FCF90044D297276A2D62
http://purl.uniprot.org/uniprot/O14773
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/09A70AE5E6DE0576E456F6CB02871A7E25B0A4CAE589704DE72C6051A17F41EE34BF374B8F10FCF90044D297276A2D62
http://purl.uniprot.org/uniprot/#_O14773-mappedCitation-17959406
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/09A70AE5E6DE0576E456F6CB02871A7E25B0A4CAE589704DE72C6051A17F41EE34BF374B8F10FCF90044D297276A2D62