{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367651922", "communityStandardTitle": [ "NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3006522[alleleid]", "alleleId": 3006522, "preferredName": "NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2852702", "RCV": [ "RCV003602471" ], "variationId": 2852702 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65445282C>A?assembly=hg19", "id": "chr7:g.65445282C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65980295C>A?assembly=hg38", "id": "chr7:g.65980295C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2484845928", "rs": 2484845928 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65980295, "referenceAllele": "C", "start": 65980294 } ], "hgvs": [ "NC_000007.14:g.65980295C>A", "CM000669.2:g.65980295C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65445282, "referenceAllele": "C", "start": 65445281 } ], "hgvs": [ "NC_000007.13:g.65445282C>A", "CM000669.1:g.65445282C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65082717, "referenceAllele": "C", "start": 65082716 } ], "hgvs": [ "NC_000007.12:g.65082717C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 7020, "referenceAllele": "G", "start": 7019 } ], "hgvs": [ "NG_016197.1:g.7020G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003003" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.9:c.325G>T" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Glu109Ter", "hgvsWellDefined": "ENSP00000302728.4:p.Glu109_Thr651delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745155", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304895.9:c.325G>T" }, "RefSeq": { "hgvs": "NM_000181.4:c.325G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000302728.4:p.Glu109Ter" }, "RefSeq": { "hgvs": "NP_000172.2:p.Glu109Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.8:c.325G>T" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Glu109Ter", "hgvsWellDefined": "ENSP00000302728.4:p.Glu109_Thr651delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255527" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000421103.5:c.325G>T" ], "proteinEffect": { "hgvs": "ENSP00000391390.1:p.Glu109Ter", "hgvsWellDefined": "ENSP00000391390.1:p.Glu109_Thr505delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286638" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "G", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000430730.5:c.325G>T" ], "proteinEffect": { "hgvs": "ENSP00000411859.1:p.Glu109Ter", "hgvsWellDefined": "ENSP00000411859.1:p.Glu109_Trp134delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291283" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000446111.1:c.325G>T" ], "proteinEffect": { "hgvs": "ENSP00000416793.1:p.Glu109Ter", "hgvsWellDefined": "ENSP00000416793.1:p.Glu109_Phe144delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValValSerGlnGlyLeuLeuCysProGluHisIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298587" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "G", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000447929.5:c.325G>T" ], "proteinEffect": { "hgvs": "ENSP00000411262.1:p.Glu109Ter", "hgvsWellDefined": "ENSP00000411262.1:p.Glu109_Phe144delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValValSerGlnGlyLeuLeuCysProGluHisIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299491" }, { "coordinates": [ { "allele": "T", "end": 115, "endIntronDirection": "+", "endIntronOffset": 1679, "referenceAllele": "G", "start": 115, "startIntronDirection": "+", "startIntronOffset": 1678 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000475316.5:n.115+1679G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316626" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000476486.5:n.236G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317519" }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000478118.1:n.251G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318791" }, { "coordinates": [ { "allele": "T", "end": 117, "referenceAllele": "G", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000479038.1:n.117G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319507" }, { "@id": "http://reg.genome.network/allele/PA2825094639", "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.3:c.325G>T" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Glu109Ter", "hgvsWellDefined": "NP_000172.2:p.Glu109_Thr651delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006243" }, { "@id": "http://reg.genome.network/allele/PA2741853225", "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.1:c.325G>T" ], "proteinEffect": { "hgvs": "NP_001271219.1:p.Glu109Ter", "hgvsWellDefined": "NP_001271219.1:p.Glu109_Thr505delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022544" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293104.1:c.-61G>T" ], "proteinEffect": { "hgvs": "NP_001280033.1:n.-61G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024484" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293105.1:c.-5G>T" ], "proteinEffect": { "hgvs": "NP_001280034.1:n.-5G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024485" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NR_120531.1:n.456G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055408" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.3:c.325G>T" ], "proteinEffect": { "hgvs": "XP_005250354.1:p.Glu109Ter", "hgvsWellDefined": "XP_005250354.1:p.Glu109_Thr600delinsArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS703205" } ], "type": "nucleotide" }