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DESCRIBE <http://purl.uniprot.org/SHA-384/41DDF3AF6FFEDADE24972C767DC7831BB8FD67D39F7752EC5996B1D734709D89C31A80116BEFD3B20C89C60983978C3B>
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http://purl.uniprot.org/SHA-384/41DDF3AF6FFEDADE24972C767DC7831BB8FD67D39F7752EC5996B1D734709D89C31A80116BEFD3B20C89C60983978C3B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/41DDF3AF6FFEDADE24972C767DC7831BB8FD67D39F7752EC5996B1D734709D89C31A80116BEFD3B20C89C60983978C3B
http://www.w3.org/2000/01/rdf-schema#comment
"Heterozygosity for ALPK1 p.Thr237Met leads to ROSAH syndrome an autosomal dominant ocular systemic disorder."
xsd:string
http://purl.uniprot.org/uniprot/#_50404E169F841179F899F6648E6464D8240799A578D1660634784C8031F04EFD575793CF126608D257073EEC4068FD85
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/41DDF3AF6FFEDADE24972C767DC7831BB8FD67D39F7752EC5996B1D734709D89C31A80116BEFD3B20C89C60983978C3B
http://purl.uniprot.org/uniprot/B3KUH8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/41DDF3AF6FFEDADE24972C767DC7831BB8FD67D39F7752EC5996B1D734709D89C31A80116BEFD3B20C89C60983978C3B
http://purl.uniprot.org/uniprot/#_B3KUH8-mappedCitation-30967659
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/41DDF3AF6FFEDADE24972C767DC7831BB8FD67D39F7752EC5996B1D734709D89C31A80116BEFD3B20C89C60983978C3B