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DESCRIBE <http://purl.uniprot.org/SHA-384/BAAD618BD4838523ACC2F845D3F67F6573C1027B26F0BF023DBFF182F607C2F360C950E78E35320FAC30FFBE439E2053>
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http://purl.uniprot.org/SHA-384/BAAD618BD4838523ACC2F845D3F67F6573C1027B26F0BF023DBFF182F607C2F360C950E78E35320FAC30FFBE439E2053
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BAAD618BD4838523ACC2F845D3F67F6573C1027B26F0BF023DBFF182F607C2F360C950E78E35320FAC30FFBE439E2053
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/#_3D3A003EE0A6B53E312005660AC04A008BAC9B1EDAB4C0FD39DF1F32422E6E3F07AD2096274EF9F51A7EAD324002D7FF
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BAAD618BD4838523ACC2F845D3F67F6573C1027B26F0BF023DBFF182F607C2F360C950E78E35320FAC30FFBE439E2053
http://purl.uniprot.org/uniprot/H0Y476
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BAAD618BD4838523ACC2F845D3F67F6573C1027B26F0BF023DBFF182F607C2F360C950E78E35320FAC30FFBE439E2053
http://purl.uniprot.org/uniprot/#_H0Y476-mappedCitation-32176688
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BAAD618BD4838523ACC2F845D3F67F6573C1027B26F0BF023DBFF182F607C2F360C950E78E35320FAC30FFBE439E2053