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        "hgvsWellDefined": "XP_016862577.1:p.Glu357_Asp523delinsValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.1069G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Glu357Ter",
        "hgvsWellDefined": "XP_024309492.1:p.Glu357_Asp523delinsValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590031",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.1069G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.Glu357Ter",
        "hgvsWellDefined": "NP_001268652.2:p.Glu357_Asp523delinsValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591049",
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.1069G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.Glu357Ter",
        "hgvsWellDefined": "NP_001268653.2:p.Glu357_Asp523delinsValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048556",
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.1069G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Glu357Ter",
        "hgvsWellDefined": "NP_001357587.1:p.Glu357_Asp523delinsValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.1069G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.1069G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Glu357Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Glu357Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.1015+54G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:n.1015+54G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2928,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.399+2928G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:n.399+2928G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.*2847G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:n.*2847G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}