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DESCRIBE <http://purl.uniprot.org/SHA-384/48A68AEB49C652197CFD515428EA3A9B639EE26E0D2B82073F030A2ACF6CDA4DD0714C0298BE570546001FB7FC51808A>
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http://purl.uniprot.org/SHA-384/48A68AEB49C652197CFD515428EA3A9B639EE26E0D2B82073F030A2ACF6CDA4DD0714C0298BE570546001FB7FC51808A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/48A68AEB49C652197CFD515428EA3A9B639EE26E0D2B82073F030A2ACF6CDA4DD0714C0298BE570546001FB7FC51808A
http://www.w3.org/2000/01/rdf-schema#comment
"Our study concludes that the splice site variant identified in the ALX1 gene causes mild form of Frontonasal dysplasia."
xsd:string
http://purl.uniprot.org/uniprot/#_2D3AB2A297E8D61D4B5EE04FF58FEBF04C520F60873C3479A456537A799AF22F50EBE0DEF9D4CE28B64CDD53B28005CD
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/48A68AEB49C652197CFD515428EA3A9B639EE26E0D2B82073F030A2ACF6CDA4DD0714C0298BE570546001FB7FC51808A
http://purl.uniprot.org/uniprot/Q15699
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/48A68AEB49C652197CFD515428EA3A9B639EE26E0D2B82073F030A2ACF6CDA4DD0714C0298BE570546001FB7FC51808A
http://purl.uniprot.org/uniprot/#_Q15699-mappedCitation-27324866
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/48A68AEB49C652197CFD515428EA3A9B639EE26E0D2B82073F030A2ACF6CDA4DD0714C0298BE570546001FB7FC51808A