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      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Arg377Ter",
        "hgvsWellDefined": "XP_011523602.1:p.Arg377_Asp564delinsLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032392",
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "referenceAllele": "C",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.7:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Arg377Ter",
        "hgvsWellDefined": "NP_079509.5:p.Arg377_Asp564delinsLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.1129C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.1129C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Arg377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Arg377Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411265",
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.3:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Arg377Ter",
        "hgvsWellDefined": "NP_001035994.1:p.Arg377_Asp564delinsLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580145285",
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.4:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Arg406Ter",
        "hgvsWellDefined": "NP_001035997.2:p.Arg406_Asp593delinsLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676049"
    }
  ],
  "type": "nucleotide"
}