{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274065", "communityStandardTitle": [ "NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186754[alleleid]", "alleleId": 186754, "preferredName": "NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188873", "RCV": [ "RCV000169227", "RCV000657614", "RCV001004323", "RCV001220088", "RCV002265653", "RCV003474901" ], "variationId": 188873 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-92131237-G-A", "id": "7-92131237-G-A", "variant": "7:92131237 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92131237G>A?assembly=hg19", "id": "chr7:g.92131237G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.92501923G>A?assembly=hg38", "id": 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"http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000248633.9:c.2383C>T" ], "proteinEffect": { "hgvs": "ENSP00000248633.4:p.Arg795Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS249574" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000428214.5:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000394413.1:p.Arg738Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS290087" }, { "coordinates": [ { "allele": "T", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000438045.5:c.1417C>T" ], "proteinEffect": { "hgvs": "ENSP00000410438.1:p.Arg473Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS294744" }, { "coordinates": [ { "allele": "T", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000484913.5:n.2422C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324059" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000496092.1:n.181C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332654" }, { "coordinates": [ { "allele": "T", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000496420.5:n.2059C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332889" }, { "@id": "http://reg.genome.network/allele/PA274066", "coordinates": [ { "allele": "T", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.2:c.2383C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Arg795Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006527" }, { "@id": "http://reg.genome.network/allele/PA2826664944", "coordinates": [ { "allele": "T", "end": 2308, "referenceAllele": "C", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.1:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Arg738Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022148" }, { "@id": "http://reg.genome.network/allele/PA2826665789", "coordinates": [ { "allele": "T", "end": 2514, "referenceAllele": "C", "start": 2513 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.1:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Arg587Ter", "hgvsWellDefined": "NP_001269607.1:p.Arg587_Ala1075delinsLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022149" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_005250433.3:c.634C>T" ], "proteinEffect": { "hgvs": "XP_005250490.1:p.Arg212Ter", "hgvsWellDefined": "XP_005250490.1:p.Arg212_Ala700delinsLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059168" }, { "coordinates": [ { "allele": "T", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.3:n.2479C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116232" }, { "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_017012319.2:c.634C>T" ], "proteinEffect": { "hgvs": "XP_016867808.1:p.Arg212Ter", "hgvsWellDefined": "XP_016867808.1:p.Arg212_Ala700delinsLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565949" }, { "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_001744808.2:n.1410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593459" }, { "coordinates": [ { "allele": "T", "end": 2430, "referenceAllele": "C", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.5:n.2430C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605897" }, { "@id": "http://reg.genome.network/allele/PA274066", "coordinates": [ { "allele": "T", "end": 2468, "referenceAllele": "C", "start": 2467 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.3:c.2383C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Arg795Ter", "hgvsWellDefined": "NP_000457.1:p.Arg795_Ala1283delinsLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662453", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000248633.9:c.2383C>T" }, "RefSeq": { "hgvs": "NM_000466.3:c.2383C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Arg795Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Arg795Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826664944", "coordinates": [ { "allele": "T", "end": 2297, "referenceAllele": "C", "start": 2296 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.2:c.2212C>T" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Arg738Ter", "hgvsWellDefined": "NP_001269606.1:p.Arg738_Ala1226delinsLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681861" }, { "@id": "http://reg.genome.network/allele/PA2826665789", "coordinates": [ { "allele": "T", "end": 2503, "referenceAllele": "C", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.2:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Arg587Ter", "hgvsWellDefined": "NP_001269607.1:p.Arg587_Ala1075delinsLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681862" } ], "type": "nucleotide" }