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        "hgvsWellDefined": "NP_001157750.1:p.Gln248_Glu451delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysAspValAlaPheTrpThrLeuAlaLeuHisProLeuAlaGluLeuThrGlyPheThrGluHisGluLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972105",
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Gln175Ter",
        "hgvsWellDefined": "NP_001157751.1:p.Gln175_Glu356delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972687",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001157752.1:p.Gln248_Glu429delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985544",
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001458.1:p.Gln248_Glu429delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971779",
      "coordinates": [
        {
          "allele": "T",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001157750.1:p.Gln248_Glu451delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysAspValAlaPheTrpThrLeuAlaLeuHisProLeuAlaGluLeuThrGlyPheThrGluHisGluLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972105",
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Gln175Ter",
        "hgvsWellDefined": "NP_001157751.1:p.Gln175_Glu356delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972687",
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001157752.1:p.Gln248_Glu429delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985544",
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001458.1:p.Gln248_Glu429delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273926",
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Gln248Ter",
        "hgvsWellDefined": "NP_001157749.1:p.Gln248_Glu429delinsPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Gln248Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:p.Gln248Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}