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  "communityStandardTitle": [
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      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_005254350.2:c.251G>A"
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      "proteinEffect": {
        "hgvs": "XP_005254407.1:p.Trp84Ter",
        "hgvsWellDefined": "XP_005254407.1:p.Trp84_Cys487delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
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      "hgvs": [
        "XM_005254356.2:c.251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254413.1:p.Trp84Ter",
        "hgvsWellDefined": "XP_005254413.1:p.Trp84_Thr279delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProGlySerCysLysArgSerTrpThrThrProPheProThrCysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
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      ],
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        "XM_006720491.2:c.194G>A"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073684"
    },
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
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          "start": 250
        }
      ],
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        "XM_006720493.2:c.251G>A"
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        "hgvsWellDefined": "XP_006720556.1:p.Trp84_Ala418delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 250
        }
      ],
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        "XM_006720494.2:c.251G>A"
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        "hgvsWellDefined": "XP_006720557.1:p.Trp84_Ser389delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
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        "XM_006720495.2:c.251G>A"
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      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Trp84Ter",
        "hgvsWellDefined": "XP_006720558.1:p.Trp84_Arg347delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "XM_011521524.1:c.251G>A"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "XR_243097.3:n.251G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS116437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "hgvs": [
        "XR_243098.2:n.251G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS116438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 351
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS118375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825932184",
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        {
          "allele": "A",
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          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879657",
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "NM_001354597.2:c.194G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341526.1:p.Trp65_His407delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880026",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.2:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Trp81Ter",
        "hgvsWellDefined": "NP_001341527.2:p.Trp81_Ala444delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880383",
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.2:c.329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Trp110Ter",
        "hgvsWellDefined": "NP_001341528.2:p.Trp110_His452delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880741",
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
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      "hgvs": [
        "NM_001354600.2:c.329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Trp110Ter",
        "hgvsWellDefined": "NP_001341529.2:p.Trp110_Ala473delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880979",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.2:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Trp81Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Trp81_Cys484delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986914",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.4:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Trp81Ter",
        "hgvsWellDefined": "NP_002216.3:p.Trp81_His423delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.1:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_006720495.3:c.251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720558.1:p.Trp84Ter",
        "hgvsWellDefined": "XP_006720558.1:p.Trp84_Arg347delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022149.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877638.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_016877638.1:p.Trp113_Cys516delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022150.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877639.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_016877639.1:p.Trp113_Asp478delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerGlyGlnTrpIleSerGlyGlySerThrGluGlyCysProCysTrpGlnLysLysGluGlyArgLysGlnGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022153.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877642.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_016877642.1:p.Trp113_Ala447delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022154.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877643.1:p.Trp94Ter",
        "hgvsWellDefined": "XP_016877643.1:p.Trp94_His436delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022155.2:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877644.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_016877644.1:p.Trp113_Ser418delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022157.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877646.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_016877646.1:p.Trp113_Arg376delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XM_017022158.2:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877647.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_016877647.1:p.Trp113_Leu308delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751263.1:n.601G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "XR_001751264.1:n.642G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825932184",
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001159508.3:c.152G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001152980.2:p.Trp51Ter",
        "hgvsWellDefined": "NP_001152980.2:p.Trp51_His393delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827879657",
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354597.3:c.194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341526.1:p.Trp65Ter",
        "hgvsWellDefined": "NP_001341526.1:p.Trp65_His407delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880026",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354598.3:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341527.2:p.Trp81Ter",
        "hgvsWellDefined": "NP_001341527.2:p.Trp81_Ala444delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880383",
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354599.3:c.329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341528.2:p.Trp110Ter",
        "hgvsWellDefined": "NP_001341528.2:p.Trp110_His452delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880741",
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354600.3:c.329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341529.2:p.Trp110Ter",
        "hgvsWellDefined": "NP_001341529.2:p.Trp110_Ala473delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827880979",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_001354601.3:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341530.2:p.Trp81Ter",
        "hgvsWellDefined": "NP_001341530.2:p.Trp81_Cys484delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915986914",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NM_002225.5:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002216.3:p.Trp81Ter",
        "hgvsWellDefined": "NP_002216.3:p.Trp81_His423delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487418.8:c.242G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002225.5:c.242G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418397.3:p.Trp81Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002216.3:p.Trp81Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006186",
      "geneNCBI_id": 3712,
      "geneSymbol": "IVD",
      "hgvs": [
        "NR_148925.2:n.654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704888"
    }
  ],
  "type": "nucleotide"
}