{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352004906", "communityStandardTitle": [ "NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1670041", "active": true, "id": "COSM1670041" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1670042", "active": true, "id": "COSM1670042" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2672012[alleleid]", "alleleId": 2672012, "preferredName": "NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2507026", "RCV": [ "RCV003238167", "RCV003779865" ], "variationId": 2507026 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33099752C>A?assembly=hg19", "id": "chr3:g.33099752C>A" } ], "MyVariantInfo_hg38": [ { "@id": 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"http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.2:c.562G>T" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Glu188Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "G", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.562G>T" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Glu188Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.472G>T" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Glu158Ter", "hgvsWellDefined": "NP_001073279.1:p.Glu158_Val647delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "G", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.472G>T" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Glu158Ter", "hgvsWellDefined": "NP_001073279.1:p.Glu158_Val647delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "coordinates": [ { "allele": "T", "end": 457, "endIntronDirection": "-", "endIntronOffset": 4710, "referenceAllele": "G", "start": 457, "startIntronDirection": "-", "startIntronOffset": 4711 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.341-4711G>T" ], "proteinEffect": { "hgvs": "NP_001129074.1:n.341-4711G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "coordinates": [ { "allele": "T", "end": 485, "endIntronDirection": "-", "endIntronOffset": 4710, "referenceAllele": "G", "start": 485, "startIntronDirection": "-", "startIntronOffset": 4711 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.341-4711G>T" ], "proteinEffect": { "hgvs": "NP_001129074.1:n.341-4711G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "G", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.706G>T" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Glu236Ter", "hgvsWellDefined": "NP_001303969.1:p.Glu236_Val725delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValArgSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162289", "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.562G>T" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Glu188Ter", "hgvsWellDefined": "NP_000395.3:p.Glu188_Val677delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.562G>T" }, "RefSeq": { "hgvs": "NM_000404.4:c.562G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Glu188Ter" }, "RefSeq": { "hgvs": "NP_000395.3:p.Glu188Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444584", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.472G>T" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Glu158Ter", "hgvsWellDefined": "NP_001073279.2:p.Glu158_Val647delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "coordinates": [ { "allele": "T", "end": 401, "endIntronDirection": "-", "endIntronOffset": 4710, "referenceAllele": "G", "start": 401, "startIntronDirection": "-", "startIntronOffset": 4711 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.341-4711G>T" ], "proteinEffect": { "hgvs": "NP_001129074.2:n.341-4711G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2741859024", "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.706G>T" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Glu236Ter", "hgvsWellDefined": "NP_001303969.2:p.Glu236_Val725delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysGlyGlnValTrpIleAsnGlyPheAsnLeuGlyArgTyrTrpProAlaArgGlyProGlnLeuThrLeuPheValProGlnHisIleLeuMetThrSerAlaProAsnThrIleThrValLeuGluLeuGluTrpAlaProCysSerSerAspAspProGluLeuCysAlaValThrPheValAspArgProValIleGlySerSerValThrTyrAspHisProSerLysProValGluLysArgLeuMetProProProProGlnLysAsnLysAspSerTrpLeuAspHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2829205899", "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.562G>T" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Glu188Ter", "hgvsWellDefined": "NP_001380509.1:p.Glu188_Gly588delinsTyrGlySerTyrPheAlaCysAspPheAspTyrLeuArgPheLeuGlnLysArgPheArgHisHisLeuGlyAspAspValValLeuPheThrThrAspGlyAlaHisLysThrPheLeuLysCysGlyAlaLeuGlnGlyLeuTyrThrThrValAspPheGlyThrGlySerAsnIleThrAspAlaPheLeuSerGlnArgLysCysGluProLysGlyProLeuIleAsnSerGluPheTyrThrGlyTrpLeuAspHisTrpGlyGlnProHisSerThrIleLysThrGluAlaValAlaSerSerLeuTyrAspIleLeuAlaArgGlyAlaSerValAsnLeuTyrMetPheIleGlyGlyThrAsnPheAlaTyrTrpAsnGlyAlaAsnSerProTyrAlaAlaGlnProThrSerTyrAspTyrAspAlaProLeuSerGluAlaGlyAspLeuThrGluLysTyrPheAlaLeuArgAsnIleIleGlnLysPheGluLysValProGluGlyProIleProProSerThrProLysPheAlaTyrGlyLysValThrLeuGluLysLeuLysThrValGlyAlaAlaLeuAspIleLeuCysProSerGlyProIleLysSerLeuTyrProLeuThrPheIleGlnValLysGlnHisTyrGlyPheValLeuTyrArgThrThrLeuProGlnAspCysSerAsnProAlaProLeuSerSerProLeuAsnGlyValHisAspArgAlaTyrValAlaValAspGlyIleProGlnGlyValLeuGluArgAsnAsnValIleThrLeuAsnIleThrGlyLysAlaGlyAlaThrLeuAspLeuLeuValGluAsnMetGlyArgValAsnTyrGlyAlaTyrIleAsnAspPheLysGlyLeuValSerAsnLeuThrLeuSerSerAsnIleLeuThrAspTrpThrIlePheProLeuAspThrGluAspAlaValCysSerHisLeuGlyGlyTrpGlyHisArgAspSerGlyHisHisAspGluAlaTrpAlaHisAsnSerSerAsnTyrThrLeuProAlaPheTyrMetGlyAsnPheSerIleProSerGlyIleProAspLeuProGlnAspThrPheIleGlnPheProGlyTrpThrLysAspGluGlyAspGlySerSerPheProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }