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"NP_001340520.1:p.Arg152_Glu564delinsPheCysArgGlnLeuSerSerMetAlaSerLysLeuIleIleSerProPheThrLeuValTyrTyrThrTyrGlnCysPheGlnArgPheLysHisMetGlnIleArgValAsnAlaGluProAlaAlaPheTyrArgAlaGlyHisValGluHisMetArgThrAspArgArgLeuGlnArgLeuLeuGlnThrGlnArgGluLeuMetSerLysGluLeuTrpLeuTyrIleGlyIleAsnThrPheAspTyrLeuGlySerIleLeuSerTyrValValIleAlaIleProIlePheSerGlyValTyrGlyAspLeuSerProAlaGluLeuSerThrLeuValSerLysAsnAlaPheValCysIleTyrLeuIleSerCysPheThrGlnLeuIleAspLeuSerThrThrLeuSerAspValAlaGlyTyrThrHisArgIleGlyGlnLeuArgGluThrLeuLeuAspMetSerLeuLysSerGlnAspCysGluIleLeuGlyGluSerGluTrpGlyLeuAspThrProProGlyTrpProAlaAlaGluProAlaAspThrAlaPheLeuLeuGluArgValSerIleSerAlaProSerSerAspLysProLeuIleLysAspLeuSerLeuLysIleSerGluGlyGlnSerLeuLeuIleThrGlyAsnThrGlyThrGlyLysThrSerLeuLeuArgValLeuGlyGlyLeuTrpThrSerThrArgGlySerValGlnMetLeuThrAspPheGlyProHisGlyValLeuPheLeuProGlnLysProPhePheThrAspGlyThrLeuArgGluGlnValIleTyrProLeuLysGluValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689797" }, { "@id": "http://reg.genome.network/allele/PA2827730140", "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353592.2:c.454C>T" ], "proteinEffect": { "hgvs": "NP_001340521.1:p.Arg152Ter", "hgvsWellDefined": "NP_001340521.1:p.Arg152_Ala550delinsPheCysArgGlnLeuSerSerMetAlaSerLysLeuIleIleSerProPheThrLeuValTyrTyrThrTyrGlnCysPheGlnArgPheLysHisMetGlnIleArgValAsnAlaGluProAlaAlaPheTyrArgAlaGlyHisValGluHisMetArgThrAspArgArgLeuGlnArgLeuLeuGlnThrGlnArgGluLeuMetSerLysGluLeuTrpLeuTyrIleGlyIleAsnThrPheAspTyrLeuGlySerIleLeuSerTyrValValIleAlaIleProIlePheSerGlyValTyrGlyAspLeuSerProAlaGluLeuSerThrLeuValSerLysAsnAlaPheValCysIleTyrLeuIleSerCysPheThrGlnLeuIleAspLeuSerThrThrLeuSerAspValAlaGlyTyrThrHisArgIleGlyGlnLeuArgGluThrLeuLeuAspMetSerLeuLysSerGlnAspCysGluIleLeuGlyGluSerGluTrpGlyLeuAspThrProProGlyTrpProAlaAlaGluProAlaAspThrAlaPheLeuLeuGluArgValSerIleSerAlaProSerSerAspLysProLeuIleLysAspLeuSerLeuLysIleSerGluGlyGlnSerLeuLeuIleThrGlyAsnThrGlyThrGlyLysThrSerLeuLeuArgValLeuGlyGlyLeuTrpThrSerThrArgGlySerValGlnMetLeuThrAspPheGlyProHisGlyValLeuPheLeuProGlnLysProPhePheThrAspGlyThrLeuArgGluGlnValIleTyrProLeuLysGluValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689798" }, { "@id": "http://reg.genome.network/allele/PA2827730323", "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353593.2:c.193C>T" ], "proteinEffect": { "hgvs": "NP_001340522.1:p.Arg65Ter", "hgvsWellDefined": "NP_001340522.1:p.Arg65_Glu519delinsPheCysArgGlnLeuSerSerMetAlaSerLysLeuIleIleSerProPheThrLeuValTyrTyrThrTyrGlnCysPheGlnSerThrGlyTrpLeuGlyProValSerIlePheGlyTyrPheIleLeuGlyThrValValAsnLysThrLeuMetGlyProIleValMetLysLeuValHisGlnGluLysLeuGluGlyAspPheArgPheLysHisMetGlnIleArgValAsnAlaGluProAlaAlaPheTyrArgAlaGlyHisValGluHisMetArgThrAspArgArgLeuGlnArgLeuLeuGlnThrGlnArgGluLeuMetSerLysGluLeuTrpLeuTyrIleGlyIleAsnThrPheAspTyrLeuGlySerIleLeuSerTyrValValIleAlaIleProIlePheSerGlyValTyrGlyAspLeuSerProAlaGluLeuSerThrLeuValSerLysAsnAlaPheValCysIleTyrLeuIleSerCysPheThrGlnLeuIleAspLeuSerThrThrLeuSerAspValAlaGlyTyrThrHisArgIleGlyGlnLeuArgGluThrLeuLeuAspMetSerLeuLysSerGlnAspCysGluIleLeuGlyGluSerGluTrpGlyLeuAspThrProProGlyTrpProAlaAlaGluProAlaAspThrAlaPheLeuLeuGluArgValSerIleSerAlaProSerSerAspLysProLeuIleLysAspLeuSerLeuLysIleSerGluGlyGlnSerLeuLeuIleThrGlyAsnThrGlyThrGlyLysThrSerLeuLeuArgValLeuGlyGlyLeuTrpThrSerThrArgGlySerValGlnMetLeuThrAspPheGlyProHisGlyValLeuPheLeuProGlnLysProPhePheThrAspGlyThrLeuArgGluGlnValIleTyrProLeuLysGluValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689799" }, { "@id": "http://reg.genome.network/allele/PA2827730518", "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353594.2:c.193C>T" ], "proteinEffect": { "hgvs": "NP_001340523.1:p.Arg65Ter", "hgvsWellDefined": "NP_001340523.1:p.Arg65_Ala488delinsPheCysArgGlnLeuSerSerMetAlaSerLysLeuIleIleSerProPheThrLeuValTyrTyrThrTyrGlnCysPheGlnSerThrGlyTrpLeuGlyProValSerIlePheGlyTyrPheIleLeuGlyThrValValAsnLysThrLeuMetGlyProIleValMetLysLeuValHisGlnGluLysLeuGluGlyAspPheArgAlaGlyHisValGluHisMetArgThrAspArgArgLeuGlnArgLeuLeuGlnThrGlnArgGluLeuMetSerLysGluLeuTrpLeuTyrIleGlyIleAsnThrPheAspTyrLeuGlySerIleLeuSerTyrValValIleAlaIleProIlePheSerGlyValTyrGlyAspLeuSerProAlaGluLeuSerThrLeuValSerLysAsnAlaPheValCysIleTyrLeuIleSerCysPheThrGlnLeuIleAspLeuSerThrThrLeuSerAspValAlaGlyTyrThrHisArgIleGlyGlnLeuArgGluThrLeuLeuAspMetSerLeuLysSerGlnAspCysGluIleLeuGlyGluSerGluTrpGlyLeuAspThrProProGlyTrpProAlaAlaGluProAlaAspThrAlaPheLeuLeuGluArgValSerIleSerAlaProSerSerAspLysProLeuIleLysAspLeuSerLeuLysIleSerGluGlyGlnSerLeuLeuIleThrGlyAsnThrGlyThrGlyLysThrSerLeuLeuArgValLeuGlyGlyLeuTrpThrSerThrArgGlySerValGlnMetLeuThrAspPheGlyProHisGlyValLeuPheLeuProGlnLysProPhePheThrAspGlyThrLeuArgGluGlnValIleTyrProLeuLysGluValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689800" }, { "@id": "http://reg.genome.network/allele/PA2827730689", "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353595.2:c.45C>T" ], "proteinEffect": { "hgvs": "NP_001340524.1:p.Ser15=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689801" }, { "@id": "http://reg.genome.network/allele/PA2827730873", "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353596.2:c.45C>T" ], "proteinEffect": { "hgvs": "NP_001340525.1:p.Ser15=" }, "referenceSequence": "http://reg.genome.network/refseq/RS689802" }, { "@id": "http://reg.genome.network/allele/PA2827731051", "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": 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"geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020324.3:c.-24C>T" ], "proteinEffect": { "hgvs": "NP_064720.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS698215" }, { "@id": "http://reg.genome.network/allele/PA2829917297", "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020325.3:c.454C>T" ], "proteinEffect": { "hgvs": "NP_064730.1:p.Arg152Ter", "hgvsWellDefined": "NP_064730.1:p.Arg152_Ala592delinsPheCysArgGlnLeuSerSerMetAlaSerLysLeuIleIleSerProPheThrLeuValTyrTyrThrTyrGlnCysPheGlnSerThrGlyTrpLeuGlyProValSerIlePheGlyTyrPheIleLeuGlyThrValValAsnLysThrLeuMetGlyProIleValMetLysLeuValHisGlnGluLysLeuGluGlyAspPheArgPheLysHisMetGlnIleArgValAsnAlaGluProAlaAlaPheTyrArgAlaGlyHisValGluHisMetArgThrAspArgArgLeuGlnArgLeuLeuGlnThrGlnArgGluLeuMetSerLysGluLeuTrpLeuTyrIleGlyIleAsnThrPheAspTyrLeuGlySerIleLeuSerTyrValValIleAlaIleProIlePheSerGlyValTyrGlyAspLeuSerProAlaGluLeuSerThrLeuValSerLysAsnAlaPheValCysIleTyrLeuIleSerCysPheThrGlnLeuIleAspLeuSerThrThrLeuSerAspValAlaGlyTyrThrHisArgIleGlyGlnLeuArgGluThrLeuLeuAspMetSerLeuLysSerGlnAspCysGluIleLeuGlyGluSerGluTrpGlyLeuAspThrProProGlyTrpProAlaAlaGluProAlaAspThrAlaPheLeuLeuGluArgValSerIleSerAlaProSerSerAspLysProLeuIleLysAspLeuSerLeuLysIleSerGluGlyGlnSerLeuLeuIleThrGlyAsnThrGlyThrGlyLysThrSerLeuLeuArgValLeuGlyGlyLeuTrpThrSerThrArgGlySerValGlnMetLeuThrAspPheGlyProHisGlyValLeuPheLeuProGlnLysProPhePheThrAspGlyThrLeuArgGluGlnValIleTyrProLeuLysGluValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" 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"nucleotide" }