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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.256C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.256C>T"
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        },
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          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Gln86Ter"
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      "coordinates": [
        {
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      },
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    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 22,
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          "start": 21
        }
      ],
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000500069.1:p.Gln8_Leu74delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluLeuLeuPheLeuArgProLysPheThrPheCysThrAlaSerAlaProProAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773213"
    },
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773257"
    },
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
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          "start": 421
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      ],
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        "ENST00000672141.1:c.256C>T"
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        "hgvsWellDefined": "ENSP00000500210.1:p.Gln86_Leu137delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluSerLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
        "ENST00000672336.1:c.256C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000500267.1:p.Gln86_Cys159delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773351"
    },
    {
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        {
          "allele": "T",
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          "start": 407
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773382"
    },
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        {
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          "end": 386,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773481"
    },
    {
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        {
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      ],
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000499944.1:p.Gln12_Ser270delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysLeuArgGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773531"
    },
    {
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        {
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      "gene": "http://reg.genome.network/gene/GN001122",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773737"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS322424"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS021688"
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
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        {
          "allele": "T",
          "end": 422,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "referenceSequence": "http://reg.genome.network/refseq/RS021690"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "geneSymbol": "BTD",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.Gln86Ter",
        "hgvsWellDefined": "XP_011532343.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827149",
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.4:c.316C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000051.1:p.Gln106_Asp543delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.2:c.322C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268652.1:p.Gln108_Asp545delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.2:c.322C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268653.1:p.Gln108_Asp545delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591515",
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.2:c.256C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268654.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827195669",
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001323582.1:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310511.1:p.Gln86Ter",
        "hgvsWellDefined": "NP_001310511.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.2:c.256C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011532343.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_017007088.1:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.Gln86Ter",
        "hgvsWellDefined": "XP_016862577.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Gln86Ter",
        "hgvsWellDefined": "XP_024309492.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826589558",
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.Gln86Ter",
        "hgvsWellDefined": "NP_001268652.2:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590506",
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.Gln86Ter",
        "hgvsWellDefined": "NP_001268653.2:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445754",
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Gln86Ter",
        "hgvsWellDefined": "NP_001357587.1:p.Gln86_Asp523delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.256C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.256C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Gln86Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Gln86Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828448699",
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Gln86Ter",
        "hgvsWellDefined": "NP_001357681.1:p.Gln86_Lys364delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisArgSerHisSerValAlaGlnThrGlyValGluTrpHisAspLeuSerSerProLysProLeuProProArgLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048698",
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:p.Gln86Ter",
        "hgvsWellDefined": "NP_001357682.1:p.Gln86_Phe141delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluAlaSerTyrValGluValArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826592492",
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.256C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:p.Gln86Ter",
        "hgvsWellDefined": "NP_001268655.2:p.Gln86_Cys159delinsIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}