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"start": 1171 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.1:c.1066C>T" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Arg356Ter", "hgvsWellDefined": 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"start": 1477 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.1:n.1478C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531003" }, { "coordinates": [ { "allele": "T", "end": 1394, "referenceAllele": "C", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.1:n.1394C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531004" }, { "coordinates": [ { "allele": "T", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020605.1:c.1288C>T" ], "proteinEffect": { "hgvs": "XP_016876094.1:p.Arg430Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS572044" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020606.1:c.1210C>T" ], "proteinEffect": { "hgvs": "XP_016876095.1:p.Arg404Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS572045" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020607.1:c.1189C>T" ], "proteinEffect": { "hgvs": "XP_016876096.1:p.Arg397Ter", "hgvsWellDefined": 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"NP_001339538.1:p.Arg430_Asp640delinsValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689323" }, { "@id": "http://reg.genome.network/allele/PA2827665967", "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.2:c.343C>T" ], "proteinEffect": { "hgvs": "NP_001339539.1:p.Arg115Ter", "hgvsWellDefined": "NP_001339539.1:p.Arg115_Glu413delinsValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689324" }, { "@id": "http://reg.genome.network/allele/PA2827666302", "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.2:c.343C>T" ], "proteinEffect": { "hgvs": "NP_001339540.1:p.Arg115Ter", "hgvsWellDefined": "NP_001339540.1:p.Arg115_Glu395delinsValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689325" }, { "@id": "http://reg.genome.network/allele/PA1139736251", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.2:c.199C>T" ], "proteinEffect": { "hgvs": "NP_001339541.1:p.Arg67Ter", "hgvsWellDefined": "NP_001339541.1:p.Arg67_Glu365delinsValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689326" }, { "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.2:n.1400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704674" }, { "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.2:n.1400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704675" }, { "coordinates": [ { "allele": "T", "end": 1322, "referenceAllele": "C", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.2:n.1322C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704676" }, { "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.2:n.1400C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704677" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.2:n.1316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704678" }, { "@id": "http://reg.genome.network/allele/PA2825654053", "coordinates": [ { "allele": "T", "end": 1238, "referenceAllele": "C", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.3:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Arg404Ter", "hgvsWellDefined": "NP_001121164.1:p.Arg404_Glu702delinsValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712226" }, { "@id": "http://reg.genome.network/allele/PA2826131742", "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.2:c.1288C>T" ], "proteinEffect": { "hgvs": "NP_001171475.1:p.Arg430Ter", "hgvsWellDefined": "NP_001171475.1:p.Arg430_Glu681delinsValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713545" } ], "type": "nucleotide" }