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      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.2:c.1095C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Tyr365Ter",
        "hgvsWellDefined": "NP_000017.1:p.Tyr365_Leu484delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825590085",
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
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      "hgvs": [
        "NM_001123378.1:c.1095C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:p.Tyr365Ter",
        "hgvsWellDefined": "NP_001116850.1:p.Tyr365_Leu425delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011454"
    },
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        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529976.1:c.1095C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528278.1:p.Tyr365Ter",
        "hgvsWellDefined": "XP_011528278.1:p.Tyr365_Lys573delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097035"
    },
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        {
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          "end": 1154,
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        }
      ],
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        "XM_011529977.1:c.1095C>G"
      ],
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        "hgvs": "XP_011528279.1:p.Tyr365Ter",
        "hgvsWellDefined": "XP_011528279.1:p.Tyr365_Ser526delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097036"
    },
    {
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        {
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          "end": 1154,
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          "start": 1153
        }
      ],
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        "hgvsWellDefined": "XP_011528280.1:p.Tyr365_Lys514delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097037"
    },
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        {
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      ],
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      "geneNCBI_id": 158,
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      "hgvs": [
        "XM_011529979.1:c.1095C>G"
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        "hgvsWellDefined": "XP_011528281.1:p.Tyr365_Phe480delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097038"
    },
    {
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        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
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        "XM_011529980.1:c.1095C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:p.Tyr365Ter",
        "hgvsWellDefined": "XP_011528282.1:p.Tyr365_Ser467delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097039"
    },
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        {
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          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529981.1:c.630C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011528283.1:p.Tyr210_Lys418delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097040"
    },
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        {
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          "end": 694,
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          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
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      "hgvs": [
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        "hgvsWellDefined": "XP_011528284.1:p.Tyr88_Lys296delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097041"
    },
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        }
      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS132626"
    },
    {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191358",
      "coordinates": [
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          "end": 1154,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825590085",
      "coordinates": [
        {
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          "end": 1154,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001116850.1:p.Tyr365_Leu425delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511387"
    },
    {
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      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
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          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001304852.1:p.Tyr301_Leu420delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044504",
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Tyr365Ter",
        "hgvsWellDefined": "NP_001350769.1:p.Tyr365_Phe480delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523595"
    },
    {
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.3:c.1095C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Tyr365Ter",
        "hgvsWellDefined": "XP_011528279.1:p.Tyr365_Ser526delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549749"
    },
    {
      "coordinates": [
        {
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          "end": 1152,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011528282.1:p.Tyr365_Ser467delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549750"
    },
    {
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        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016884125.1:p.Tyr350_Ser511delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578329"
    },
    {
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        {
          "allele": "G",
          "end": 1074,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028637.1:c.1050C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016884126.1:p.Tyr350_Leu469delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578330"
    },
    {
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        {
          "allele": "G",
          "end": 1011,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028638.1:c.630C>G"
      ],
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        "hgvsWellDefined": "XP_016884129.1:p.Tyr88_Ser249delinsProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS611738"
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      "gene": "http://reg.genome.network/gene/GN000291",
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NP_000017.1:p.Tyr365Ter"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS690783"
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS730851"
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  ],
  "type": "nucleotide"
}