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DESCRIBE <http://purl.uniprot.org/SHA-384/D4B89C70E63AFAA69B04DDFB8E02757F8743B124704BD4572A52A943BF0C94D9B407052B1FDF72C950FBC2F427ACF4D4>
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http://purl.uniprot.org/SHA-384/D4B89C70E63AFAA69B04DDFB8E02757F8743B124704BD4572A52A943BF0C94D9B407052B1FDF72C950FBC2F427ACF4D4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D4B89C70E63AFAA69B04DDFB8E02757F8743B124704BD4572A52A943BF0C94D9B407052B1FDF72C950FBC2F427ACF4D4
http://www.w3.org/2000/01/rdf-schema#comment
"A heterozygous T to C transition at nucleotide 1055 of the GFAP gene resulting in an amino acid replacement of leucine by proline at codon 352 (L352P) was noted in an infant with Alexander disease"
xsd:string
http://purl.uniprot.org/uniprot/#_D746A83BC612A9DC4D0D6DF2135A8B143872EA2F335FC53EC662C5013D362D27BE3FE00FDE58F446555BCE6749D78AF0
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D4B89C70E63AFAA69B04DDFB8E02757F8743B124704BD4572A52A943BF0C94D9B407052B1FDF72C950FBC2F427ACF4D4
http://purl.uniprot.org/uniprot/P14136
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D4B89C70E63AFAA69B04DDFB8E02757F8743B124704BD4572A52A943BF0C94D9B407052B1FDF72C950FBC2F427ACF4D4
http://purl.uniprot.org/uniprot/#_P14136-mappedCitation-14557587
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D4B89C70E63AFAA69B04DDFB8E02757F8743B124704BD4572A52A943BF0C94D9B407052B1FDF72C950FBC2F427ACF4D4