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DESCRIBE <http://purl.uniprot.org/SHA-384/FEA3B9566CA0502F98D5D5A61AADFC0B87848013424C15990E41B3927AEB3CA2B08A776C43C5CF3C3E29B09BECEAADB5>
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http://purl.uniprot.org/SHA-384/FEA3B9566CA0502F98D5D5A61AADFC0B87848013424C15990E41B3927AEB3CA2B08A776C43C5CF3C3E29B09BECEAADB5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FEA3B9566CA0502F98D5D5A61AADFC0B87848013424C15990E41B3927AEB3CA2B08A776C43C5CF3C3E29B09BECEAADB5
http://www.w3.org/2000/01/rdf-schema#comment
"Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene."
xsd:string
http://purl.uniprot.org/uniprot/#_FDD5C76689AF2D165C5CFCADF2E537853FD5AD0AC4D0B613525B4097A78BB473DF0542828861E8D95B29DB67B38F2B1E
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FEA3B9566CA0502F98D5D5A61AADFC0B87848013424C15990E41B3927AEB3CA2B08A776C43C5CF3C3E29B09BECEAADB5
http://purl.uniprot.org/uniprot/A0A0S2Z550
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FEA3B9566CA0502F98D5D5A61AADFC0B87848013424C15990E41B3927AEB3CA2B08A776C43C5CF3C3E29B09BECEAADB5
http://purl.uniprot.org/uniprot/#_A0A0S2Z550-mappedCitation-32186211
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FEA3B9566CA0502F98D5D5A61AADFC0B87848013424C15990E41B3927AEB3CA2B08A776C43C5CF3C3E29B09BECEAADB5