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        "hgvsWellDefined": "XP_006722179.1:p.Tyr170_Asp593delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.1:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Tyr141Ter",
        "hgvsWellDefined": "XP_011523602.1:p.Tyr141_Asp564delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525301.1:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523603.1:p.Tyr141Ter",
        "hgvsWellDefined": "XP_011523603.1:p.Tyr141_Leu466delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluAspProIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XR_429926.1:n.916C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_006722116.4:c.510C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722179.1:p.Tyr170Ter",
        "hgvsWellDefined": "XP_006722179.1:p.Tyr170_Asp593delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.2:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Tyr141Ter",
        "hgvsWellDefined": "XP_011523602.1:p.Tyr141_Asp564delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032265",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.7:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Tyr141Ter",
        "hgvsWellDefined": "NP_079509.5:p.Tyr141_Asp564delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.423C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.423C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Tyr141Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Tyr141Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411173",
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.3:c.423C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Tyr141Ter",
        "hgvsWellDefined": "NP_001035994.1:p.Tyr141_Asp564delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573178964",
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.4:c.510C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Tyr170Ter",
        "hgvsWellDefined": "NP_001035997.2:p.Tyr170_Asp593delinsSerCysCysProArgLeuAlaSerValLeuLeuTyrSerAspTyrGlyIleGlyGluValProValGluProLeuAspValProLeuProSerThrIleArgProAlaSerProValAlaGlySerProLysGlnProValArgGlyTyrTyrArgGlyAlaValGlyGlyThrPheAspArgLeuHisAsnAlaHisLysValLeuLeuSerValAlaCysIleLeuAlaGlnGluGlnLeuValValGlyValAlaAspLysAspLeuLeuLysSerLysLeuLeuProGluLeuLeuGlnProTyrThrGluArgValGluHisLeuSerGluPheLeuValAspIleLysProSerLeuThrPheAspValIleProLeuLeuAspProTyrGlyProAlaGlySerAspProSerLeuGluPheLeuValValSerGluGluThrTyrArgGlyGlyMetAlaIleAsnArgPheArgLeuGluAsnAspLeuGluGluLeuAlaLeuTyrGlnIleGlnLeuLeuLysAspLeuArgHisThrGluAsnGluGluAspLysValSerSerSerSerPheArgGlnArgMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676049"
    }
  ],
  "type": "nucleotide"
}