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  "@id": "http://reg.genome.network/allele/CA5921404",
  "communityStandardTitle": [
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323615",
        "RCV": [
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          "RCV004040802"
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        "@id": "http://myvariant.info/v1/variant/chr11:g.20648308C>T?assembly=hg19",
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        "maneStatus": "MANE Select",
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029387"
    },
    {
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        {
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          "end": 1255,
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS060213"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989268",
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        {
          "allele": "T",
          "end": 1449,
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512860"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016874033.1:p.Arg147Ter",
        "hgvsWellDefined": "XP_016874033.1:p.Arg147_Cys505delinsGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018545.2:c.274C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874034.1:p.Arg92Ter",
        "hgvsWellDefined": "XP_016874034.1:p.Arg92_Cys450delinsGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.2:c.613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Arg205Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Arg205_Cys563delinsGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084563",
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.5:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.4:p.Arg439Ter",
        "hgvsWellDefined": "NP_004202.4:p.Arg439_Cys797delinsGlyValThrLeuProGlyAlaGlyAlaGlyIleTrpTyrPheIleThrProLysTrpGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.1315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.1315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Arg439Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Arg439Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}