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        {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
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        "hgvsWellDefined": "XP_006720558.1:p.Arg81_Arg347delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS088684"
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      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
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      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
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    {
      "coordinates": [
        {
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          "endIntronDirection": "-",
          "endIntronOffset": 215,
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      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
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      "@id": "http://reg.genome.network/allele/PA2827880373",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880738",
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        {
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      ],
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      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Arg78Ter",
        "hgvsWellDefined": "NP_001341529.2:p.Arg78_Ala473delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880977",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Arg78Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Arg78_Cys484delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865466",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Arg78Ter",
        "hgvsWellDefined": "NP_002216.3:p.Arg78_His423delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.642C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_006720558.1:p.Arg81_Arg347delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_016877638.1:p.Arg81_Cys516delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_016877639.1:p.Arg81_Asp478delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerGlyGlnTrpIleSerGlyGlySerThrGluGlyCysProCysTrpGlnLysLysGluGlyArgLysGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_016877642.1:p.Arg81_Ala447delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.184C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Arg62Ter",
        "hgvsWellDefined": "XP_016877643.1:p.Arg62_His436delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "C",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_016877644.1:p.Arg81_Ser418delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_016877646.1:p.Arg81_Arg376delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022158.2:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877647.1:p.Arg81Ter",
        "hgvsWellDefined": "XP_016877647.1:p.Arg81_Leu308delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 590
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      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS598193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
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          "startIntronDirection": "-",
          "startIntronOffset": 216
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
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      "@id": "http://reg.genome.network/allele/PA2827880024",
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341527.2:p.Arg78_Ala444delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880373",
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        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "NM_001354599.3:c.232C>T"
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      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Arg78Ter",
        "hgvsWellDefined": "NP_001341528.2:p.Arg78_His452delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880738",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341529.2:p.Arg78_Ala473delinsValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880977",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "NM_001354601.3:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Arg78Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Arg78_Cys484delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865466",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
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          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Arg78Ter",
        "hgvsWellDefined": "NP_002216.3:p.Arg78_His423delinsGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Arg78Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Arg78Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.644C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}