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DESCRIBE <http://purl.uniprot.org/SHA-384/6AD7CA862F111D4C19BA437D9B827E870BD70B9870BB1558D062FF0CB1636DF39B33BB1C9B1D5C88AB831AD1FF30517C>
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http://purl.uniprot.org/SHA-384/6AD7CA862F111D4C19BA437D9B827E870BD70B9870BB1558D062FF0CB1636DF39B33BB1C9B1D5C88AB831AD1FF30517C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6AD7CA862F111D4C19BA437D9B827E870BD70B9870BB1558D062FF0CB1636DF39B33BB1C9B1D5C88AB831AD1FF30517C
http://www.w3.org/2000/01/rdf-schema#comment
"The homozygous CACNB4 p.(Leu126Pro) variant underlies the severe neurological phenotype in the two siblings."
xsd:string
http://purl.uniprot.org/uniprot/#_B903BD6F68917420825EC842CDA19220B2D740E9C20804EA60FDB0E5F2912C36DB531B947EA4D2E1D80FF7D046F228BD
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6AD7CA862F111D4C19BA437D9B827E870BD70B9870BB1558D062FF0CB1636DF39B33BB1C9B1D5C88AB831AD1FF30517C
http://purl.uniprot.org/uniprot/A0A1B0GTX8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6AD7CA862F111D4C19BA437D9B827E870BD70B9870BB1558D062FF0CB1636DF39B33BB1C9B1D5C88AB831AD1FF30517C
http://purl.uniprot.org/uniprot/#_A0A1B0GTX8-mappedCitation-32176688
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6AD7CA862F111D4C19BA437D9B827E870BD70B9870BB1558D062FF0CB1636DF39B33BB1C9B1D5C88AB831AD1FF30517C