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DESCRIBE <http://purl.uniprot.org/SHA-384/5F2B925E999A101646BF6B08294752925B204666DE60131EB3C4CD3B3E3CD75B9F5AF462834106D4040853A7AD564BBB>
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http://purl.uniprot.org/SHA-384/5F2B925E999A101646BF6B08294752925B204666DE60131EB3C4CD3B3E3CD75B9F5AF462834106D4040853A7AD564BBB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5F2B925E999A101646BF6B08294752925B204666DE60131EB3C4CD3B3E3CD75B9F5AF462834106D4040853A7AD564BBB
http://www.w3.org/2000/01/rdf-schema#comment
"The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q p.R427C and p.L527R)."
xsd:string
http://purl.uniprot.org/uniprot/#_FA6BCE8935E6579E575611DD0707013FCFA824C3668CBFC55B5D7D295CA013E051155656722EB5EDB0959CCB1ACD4250
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5F2B925E999A101646BF6B08294752925B204666DE60131EB3C4CD3B3E3CD75B9F5AF462834106D4040853A7AD564BBB
http://purl.uniprot.org/uniprot/Q5T697
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5F2B925E999A101646BF6B08294752925B204666DE60131EB3C4CD3B3E3CD75B9F5AF462834106D4040853A7AD564BBB
http://purl.uniprot.org/uniprot/#_Q5T697-mappedCitation-23362848
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5F2B925E999A101646BF6B08294752925B204666DE60131EB3C4CD3B3E3CD75B9F5AF462834106D4040853A7AD564BBB