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        "hgvsWellDefined": "XP_011516149.1:p.Trp552_Leu621delinsAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysSerPheProArgLysSerArgAspSerPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517848.2:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516150.1:p.Trp466Ter",
        "hgvsWellDefined": "XP_011516150.1:p.Trp466_Thr617delinsAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "endIntronDirection": "-",
          "endIntronOffset": 36,
          "referenceAllele": "G",
          "start": 1782,
          "startIntronDirection": "-",
          "startIntronOffset": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011516151.1:n.1582-37G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_017014625.2:c.1385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870114.1:p.Trp462Ter",
        "hgvsWellDefined": "XP_016870114.1:p.Trp462_Thr613delinsAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "endIntronDirection": "-",
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          "referenceAllele": "G",
          "start": 1782,
          "startIntronDirection": "-",
          "startIntronOffset": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_002956774.1:n.1783-37G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "endIntronDirection": "-",
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          "startIntronDirection": "-",
          "startIntronOffset": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS609139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      "referenceSequence": "http://reg.genome.network/refseq/RS609140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645462808",
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_012144.4:c.1643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036276.1:p.Trp548Ter",
        "hgvsWellDefined": "NP_036276.1:p.Trp548_Thr699delinsAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242317.9:c.1643G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012144.4:c.1643G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242317.4:p.Trp548Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036276.1:p.Trp548Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010844",
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_001281428.2:c.1655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268357.1:p.Trp552Ter",
        "hgvsWellDefined": "NP_001268357.1:p.Trp552_Thr703delinsAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715686"
    }
  ],
  "type": "nucleotide"
}