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        "hgvsWellDefined": "NP_001350450.1:p.Trp252_Glu413delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492531",
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.936G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:p.Trp312Ter",
        "hgvsWellDefined": "NP_001358519.1:p.Trp312_Glu473delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828493067",
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "G",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.1071G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Trp357Ter",
        "hgvsWellDefined": "NP_001358520.1:p.Trp357_Glu521delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580220031",
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.1077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Trp359Ter",
        "hgvsWellDefined": "NP_001358521.1:p.Trp359_Glu520delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828441190",
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Trp319Ter",
        "hgvsWellDefined": "NP_001358522.1:p.Trp319_Glu480delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828442447",
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.924G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:p.Trp308Ter",
        "hgvsWellDefined": "NP_001358523.1:p.Trp308_Glu469delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828443315",
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.789G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:p.Trp263Ter",
        "hgvsWellDefined": "NP_001358524.1:p.Trp263_Glu424delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828444687",
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "G",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.1071G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Trp357Ter",
        "hgvsWellDefined": "NP_001358525.1:p.Trp357_Glu518delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.1071G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.1071G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Trp357Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Trp357Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293977",
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.1071G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Trp357Ter",
        "hgvsWellDefined": "NP_689991.1:p.Trp357_Glu518delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830293977",
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.1071G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Trp357Ter",
        "hgvsWellDefined": "NP_689991.1:p.Trp357_Glu518delinsGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}