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"http://reg.genome.network/allele/PA2827664774", "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352607.1:c.1378C>T" ], "proteinEffect": { "hgvs": "NP_001339536.1:p.Arg460Ter", "hgvsWellDefined": "NP_001339536.1:p.Arg460_Glu655delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521034" }, { "@id": "http://reg.genome.network/allele/PA2827665318", "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.1:c.1234C>T" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Arg412Ter", "hgvsWellDefined": "NP_001339537.1:p.Arg412_Glu654delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521035" }, { "@id": "http://reg.genome.network/allele/PA2573202861", "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352609.1:c.1456C>T" ], "proteinEffect": { "hgvs": "NP_001339538.1:p.Arg486Ter", "hgvsWellDefined": "NP_001339538.1:p.Arg486_Asp640delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521036" }, { "@id": "http://reg.genome.network/allele/PA2827666018", "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, 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"http://reg.genome.network/allele/PA2827666353", "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001339540.1:p.Arg171Ter", "hgvsWellDefined": "NP_001339540.1:p.Arg171_Glu395delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521038" }, { "@id": "http://reg.genome.network/allele/PA2827666633", "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.1:c.367C>T" ], "proteinEffect": { "hgvs": "NP_001339541.1:p.Arg123Ter", "hgvsWellDefined": "NP_001339541.1:p.Arg123_Glu365delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521039" }, { "coordinates": [ 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"XP_016876094.1:p.Arg486_Asn744delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572044" }, { "coordinates": [ { "allele": "T", "end": 1408, "referenceAllele": "C", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020606.1:c.1378C>T" ], "proteinEffect": { "hgvs": "XP_016876095.1:p.Arg460Ter", "hgvsWellDefined": "XP_016876095.1:p.Arg460_Asn718delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572045" }, { "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020607.1:c.1357C>T" ], "proteinEffect": { "hgvs": "XP_016876096.1:p.Arg453Ter", "hgvsWellDefined": "XP_016876096.1:p.Arg453_Asn711delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572046" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020609.1:c.1357C>T" ], "proteinEffect": { "hgvs": "XP_016876098.1:p.Arg453Ter", "hgvsWellDefined": "XP_016876098.1:p.Arg453_Glu695delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572047" }, { "coordinates": [ { "allele": "T", "end": 1557, "referenceAllele": "C", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020611.1:c.1456C>T" ], "proteinEffect": { "hgvs": "XP_016876100.1:p.Arg486Ter", "hgvsWellDefined": "XP_016876100.1:p.Arg486_Asp683delinsGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerProTrpArgLysLeuLeuAspTer" }, 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