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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "start": 207
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
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      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006720558.1:p.Glu70_Arg347delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088684"
    },
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      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 248,
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          "startIntronDirection": "-",
          "startIntronOffset": 249
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      "proteinEffect": {
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      "@id": "http://reg.genome.network/allele/PA2827879643",
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      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880012",
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        {
          "allele": "T",
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          "start": 231
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
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      "@id": "http://reg.genome.network/allele/PA2827880362",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880727",
      "coordinates": [
        {
          "allele": "T",
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          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Glu67Ter",
        "hgvsWellDefined": "NP_001341529.2:p.Glu67_Ala473delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880965",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Glu67Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Glu67_Cys484delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139712573",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Glu67Ter",
        "hgvsWellDefined": "NP_002216.3:p.Glu67_His423delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.609G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_006720558.1:p.Glu70_Arg347delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_016877638.1:p.Glu70_Cys516delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_016877639.1:p.Glu70_Asp478delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerGlyGlnTrpIleSerGlyGlySerThrGluGlyCysProCysTrpGlnLysLysGluGlyArgLysGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_016877642.1:p.Glu70_Ala447delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.151G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Glu51Ter",
        "hgvsWellDefined": "XP_016877643.1:p.Glu51_His436delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "G",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_016877644.1:p.Glu70_Ser418delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_016877646.1:p.Glu70_Arg376delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022158.2:c.208G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877647.1:p.Glu70Ter",
        "hgvsWellDefined": "XP_016877647.1:p.Glu70_Leu308delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751263.1:n.558G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751264.1:n.599G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 248,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.145-249G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:n.145-249G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879643",
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.151G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Glu51Ter",
        "hgvsWellDefined": "NP_001341526.1:p.Glu51_His407delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880012",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Glu67Ter",
        "hgvsWellDefined": "NP_001341527.2:p.Glu67_Ala444delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880362",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Glu67Ter",
        "hgvsWellDefined": "NP_001341528.2:p.Glu67_His452delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880727",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Glu67Ter",
        "hgvsWellDefined": "NP_001341529.2:p.Glu67_Ala473delinsIleAspArgSerAsnGluPheLysAsnLeuArgValSerTrpGluValArgAlaValGlyGlySerGlnGlyValGlyLeuSerCysThrAlaAlaTrpLysSerSerHisSerPheLeuGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880965",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Glu67Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Glu67_Cys484delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139712573",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Glu67Ter",
        "hgvsWellDefined": "NP_002216.3:p.Glu67_His423delinsIleAspArgSerAsnGluPheLysAsnLeuArgGluPheTrpLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.199G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.199G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Glu67Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Glu67Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.611G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}