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      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_006722116.4:c.1033C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722179.1:p.Gln345Ter",
        "hgvsWellDefined": "XP_006722179.1:p.Gln345_Asp593delinsLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.2:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Gln316Ter",
        "hgvsWellDefined": "XP_011523602.1:p.Gln316_Asp564delinsLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032357",
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.7:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Gln316Ter",
        "hgvsWellDefined": "NP_079509.5:p.Gln316_Asp564delinsLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.946C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.946C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Gln316Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Gln316Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411239",
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.3:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Gln316Ter",
        "hgvsWellDefined": "NP_001035994.1:p.Gln316_Asp564delinsLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580145272",
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.4:c.1033C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Gln345Ter",
        "hgvsWellDefined": "NP_001035997.2:p.Gln345_Asp593delinsLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676049"
    }
  ],
  "type": "nucleotide"
}