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          "start": 103
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      ],
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      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641686.2:c.64G>T"
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000641686.2:c.64G>T"
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          "RefSeq": {
            "hgvs": "NM_001371596.2:c.64G>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000493218.2:p.Glu22Ter"
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          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Glu22Ter"
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        }
      }
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS766268"
    },
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS766273"
    },
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766303"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS766304"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS766308"
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS766311"
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766327"
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    {
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        {
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      ],
      "gene": "http://reg.genome.network/gene/GN028486",
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      "referenceSequence": "http://reg.genome.network/refseq/RS766379"
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS766408"
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      "referenceSequence": "http://reg.genome.network/refseq/RS766455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS339461"
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      "referenceSequence": "http://reg.genome.network/refseq/RS343275"
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      "referenceSequence": "http://reg.genome.network/refseq/RS344445"
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    {
      "@id": "http://reg.genome.network/allele/PA891860169",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042142"
    },
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063604"
    },
    {
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063605"
    },
    {
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        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
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      "proteinEffect": {
        "hgvs": "NP_001350449.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001350449.1:p.Glu22_Glu451delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828088613",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.2:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001350450.1:p.Glu22_Glu413delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "referenceAllele": "G",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.-72G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:n.-72G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492731",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001358520.1:p.Glu22_Glu521delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828440259",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001358521.1:p.Glu22_Glu520delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGlyArgPhePheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828440756",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001358522.1:p.Glu22_Glu480delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828441689",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001358523.1:p.Glu22_Glu469delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.-71-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:n.-71-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828443878",
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_001358525.1:p.Glu22_Glu518delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.64G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.64G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Glu22Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Glu22Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA891860169",
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_689991.1:p.Glu22_Glu518delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891860169",
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Glu22Ter",
        "hgvsWellDefined": "NP_689991.1:p.Glu22_Glu518delinsTrpAspIleLeuGluThrGluGluHisTyrLysSerArgTrpArgSerIleArgIleLeuTyrLeuThrMetPheLeuSerSerValGlyPheSerValValMetMetSerIleTrpProTyrLeuGlnLysIleAspProThrAlaAspThrSerPheLeuGlyTrpValIleAlaSerTyrSerLeuGlyGlnMetValAlaSerProIlePheGlyLeuTrpSerAsnTyrArgProArgLysGluProLeuIleValSerIleLeuIleSerValAlaAlaAsnCysLeuTyrAlaTyrLeuHisIleProAlaSerHisAsnLysTyrTyrMetLeuValAlaArgGlyLeuLeuGlyIleGlyAlaGlyAsnValAlaValValArgSerTyrThrAlaGlyAlaThrSerLeuGlnGluArgThrSerSerMetAlaAsnIleSerMetCysGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}