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"http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.1:c.1090G>T" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Gly364Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827665769", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352609.1:c.1312G>T" ], "proteinEffect": { "hgvs": "NP_001339538.1:p.Gly438Ter", "hgvsWellDefined": "NP_001339538.1:p.Gly438_Asp640delinsSerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer" }, 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"geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.1:n.1502G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531003" }, { "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.1:n.1418G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531004" }, { "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020605.1:c.1312G>T" ], "proteinEffect": { "hgvs": "XP_016876094.1:p.Gly438Ter", "hgvsWellDefined": 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"NP_001339540.1:p.Gly123_Glu395delinsSerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689325" }, { "@id": "http://reg.genome.network/allele/PA2499251366", "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.2:c.223G>T" ], "proteinEffect": { "hgvs": "NP_001339541.1:p.Gly75Ter", "hgvsWellDefined": "NP_001339541.1:p.Gly75_Glu365delinsSerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689326" }, { "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.2:n.1424G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704674" }, { "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.2:n.1424G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704675" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "G", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.2:n.1346G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704676" }, { "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.2:n.1424G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704677" }, { "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "G", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.2:n.1340G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704678" }, { "@id": "http://reg.genome.network/allele/PA2825654056", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.3:c.1234G>T" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Gly412Ter", "hgvsWellDefined": "NP_001121164.1:p.Gly412_Glu702delinsSerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712226" }, { "@id": "http://reg.genome.network/allele/PA2826131745", "coordinates": [ { "allele": "T", "end": 1340, "referenceAllele": "G", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.2:c.1312G>T" ], "proteinEffect": { "hgvs": "NP_001171475.1:p.Gly438Ter", "hgvsWellDefined": "NP_001171475.1:p.Gly438_Glu681delinsSerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713545" } ], "type": "nucleotide" }