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DESCRIBE <http://purl.uniprot.org/SHA-384/4E40452AB15930316E18573B7B168336522A1324D63678C363CA51797E2D731B6912297C16409B19E0B3FA448AECFBDF>
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http://purl.uniprot.org/SHA-384/4E40452AB15930316E18573B7B168336522A1324D63678C363CA51797E2D731B6912297C16409B19E0B3FA448AECFBDF
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4E40452AB15930316E18573B7B168336522A1324D63678C363CA51797E2D731B6912297C16409B19E0B3FA448AECFBDF
http://www.w3.org/2000/01/rdf-schema#comment
"A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation."
xsd:string
http://purl.uniprot.org/uniprot/#_EE25CE4D420F166DED5B67779F378CBE6210C96851A805B1EBD2393B58A6BB46E64044F8EA1B40B122E4D09F85044F94
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4E40452AB15930316E18573B7B168336522A1324D63678C363CA51797E2D731B6912297C16409B19E0B3FA448AECFBDF
http://purl.uniprot.org/uniprot/A8K2T9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4E40452AB15930316E18573B7B168336522A1324D63678C363CA51797E2D731B6912297C16409B19E0B3FA448AECFBDF
http://purl.uniprot.org/uniprot/#_A8K2T9-mappedCitation-32944789
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4E40452AB15930316E18573B7B168336522A1324D63678C363CA51797E2D731B6912297C16409B19E0B3FA448AECFBDF