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DESCRIBE <http://purl.uniprot.org/SHA-384/4AA3D9C34F48DDCC9A8843A96BCBE4E4D15C62BD38568BA34580E1EAF071B742592AB2358110881ED9555526AE81A77A>
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http://purl.uniprot.org/SHA-384/4AA3D9C34F48DDCC9A8843A96BCBE4E4D15C62BD38568BA34580E1EAF071B742592AB2358110881ED9555526AE81A77A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4AA3D9C34F48DDCC9A8843A96BCBE4E4D15C62BD38568BA34580E1EAF071B742592AB2358110881ED9555526AE81A77A
http://www.w3.org/2000/01/rdf-schema#comment
"Germline variants in ABL1 cause a syndrome characterized by congenital heart disease skeletal abnormalities and failure to thrive."
xsd:string
http://purl.uniprot.org/uniprot/#_EA09B7F1936B5F97D5546A2B1009FA663CB0A4879DDDBEB9814335247AE65F248FE8746C3620897BA5BB9B55866C7CB9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4AA3D9C34F48DDCC9A8843A96BCBE4E4D15C62BD38568BA34580E1EAF071B742592AB2358110881ED9555526AE81A77A
http://purl.uniprot.org/uniprot/Q13914
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4AA3D9C34F48DDCC9A8843A96BCBE4E4D15C62BD38568BA34580E1EAF071B742592AB2358110881ED9555526AE81A77A
http://purl.uniprot.org/uniprot/#_Q13914-mappedCitation-28288113
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4AA3D9C34F48DDCC9A8843A96BCBE4E4D15C62BD38568BA34580E1EAF071B742592AB2358110881ED9555526AE81A77A