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DESCRIBE <http://purl.uniprot.org/SHA-384/2DA21C65D4F6F2FD42398F9CE02D150AF4B4F7B9DDBF45E64E084A2B44314F328299B804EB54A6726F42046647C8D469>
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http://purl.uniprot.org/SHA-384/2DA21C65D4F6F2FD42398F9CE02D150AF4B4F7B9DDBF45E64E084A2B44314F328299B804EB54A6726F42046647C8D469
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2DA21C65D4F6F2FD42398F9CE02D150AF4B4F7B9DDBF45E64E084A2B44314F328299B804EB54A6726F42046647C8D469
http://www.w3.org/2000/01/rdf-schema#comment
"A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review."
xsd:string
http://purl.uniprot.org/uniprot/#_6863BFE95B77E89116FD6A13BACB2C1A49B6B2C3E7BE52F46895BD3E1CAAA460510D217CDD3AC90C15ABD90290C8CF18
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2DA21C65D4F6F2FD42398F9CE02D150AF4B4F7B9DDBF45E64E084A2B44314F328299B804EB54A6726F42046647C8D469
http://purl.uniprot.org/uniprot/Q9Y5Z1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2DA21C65D4F6F2FD42398F9CE02D150AF4B4F7B9DDBF45E64E084A2B44314F328299B804EB54A6726F42046647C8D469
http://purl.uniprot.org/uniprot/#_Q9Y5Z1-mappedCitation-31696431
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2DA21C65D4F6F2FD42398F9CE02D150AF4B4F7B9DDBF45E64E084A2B44314F328299B804EB54A6726F42046647C8D469