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        }
      ],
      "gene": "http://reg.genome.network/gene/GN025033",
      "geneNCBI_id": 220074,
      "geneSymbol": "LRTOMT",
      "hgvs": [
        "NM_001145309.4:c.333C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138781.1:p.Tyr111Ter",
        "hgvsWellDefined": "NP_001138781.1:p.Tyr111_Gly291delinsLeuSerHisMetGlyProValLysGlyGlnIleLeuMetArgLeuValGluGluLysAlaProAlaCysValLeuGluLeuGlyThrTyrCysGlyTyrSerThrLeuLeuIleAlaArgAlaLeuProProGlyGlyArgLeuLeuThrValGluArgAspProArgThrAlaAlaValAlaGluLysLeuIleArgLeuAlaGlyPheAspGluHisMetValGluLeuIleValGlySerSerGluAspValIleProCysLeuArgThrGlnTyrGlnLeuSerArgAlaAspLeuValLeuLeuAlaHisArgProArgCysTyrLeuArgAspLeuGlnLeuLeuGluAlaHisAlaLeuLeuProAlaGlyAlaThrValLeuAlaAspHisValLeuPheProGlyAlaProArgPheLeuGlnTyrAlaLysSerCysGlyArgTyrArgCysArgLeuHisHisThrGlyLeuProAspPheProAlaIleLysAspGlyIleAlaGlnLeuThrTyrAlaGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251502",
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025033",
      "geneNCBI_id": 220074,
      "geneSymbol": "LRTOMT",
      "hgvs": [
        "NM_001145310.4:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138782.1:p.Tyr71Ter",
        "hgvsWellDefined": "NP_001138782.1:p.Tyr71_Gly251delinsLeuSerHisMetGlyProValLysGlyGlnIleLeuMetArgLeuValGluGluLysAlaProAlaCysValLeuGluLeuGlyThrTyrCysGlyTyrSerThrLeuLeuIleAlaArgAlaLeuProProGlyGlyArgLeuLeuThrValGluArgAspProArgThrAlaAlaValAlaGluLysLeuIleArgLeuAlaGlyPheAspGluHisMetValGluLeuIleValGlySerSerGluAspValIleProCysLeuArgThrGlnTyrGlnLeuSerArgAlaAspLeuValLeuLeuAlaHisArgProArgCysTyrLeuArgAspLeuGlnLeuLeuGluAlaHisAlaLeuLeuProAlaGlyAlaThrValLeuAlaAspHisValLeuPheProGlyAlaProArgPheLeuGlnTyrAlaLysSerCysGlyArgTyrArgCysArgLeuHisHisThrGlyLeuProAspPheProAlaIleLysAspGlyIleAlaGlnLeuThrTyrAlaGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080289",
      "coordinates": [
        {
          "allele": "G",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055527",
      "geneNCBI_id": 120356740,
      "geneSymbol": "TOMT",
      "hgvs": [
        "NM_001393500.1:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380429.1:p.Tyr78Ter",
        "hgvsWellDefined": "NP_001380429.1:p.Tyr78_Gly258delinsLeuSerHisMetGlyProValLysGlyGlnIleLeuMetArgLeuValGluGluLysAlaProAlaCysValLeuGluLeuGlyThrTyrCysGlyTyrSerThrLeuLeuIleAlaArgAlaLeuProProGlyGlyArgLeuLeuThrValGluArgAspProArgThrAlaAlaValAlaGluLysLeuIleArgLeuAlaGlyPheAspGluHisMetValGluLeuIleValGlySerSerGluAspValIleProCysLeuArgThrGlnTyrGlnLeuSerArgAlaAspLeuValLeuLeuAlaHisArgProArgCysTyrLeuArgAspLeuGlnLeuLeuGluAlaHisAlaLeuLeuProAlaGlyAlaThrValLeuAlaAspHisValLeuPheProGlyAlaProArgPheLeuGlnTyrAlaLysSerCysGlyArgTyrArgCysArgLeuHisHisThrGlyLeuProAspPheProAlaIleLysAspGlyIleAlaGlnLeuThrTyrAlaGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080289",
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055527",
      "geneNCBI_id": 120356740,
      "geneSymbol": "TOMT",
      "hgvs": [
        "NM_001393500.2:c.234C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380429.1:p.Tyr78Ter",
        "hgvsWellDefined": "NP_001380429.1:p.Tyr78_Gly258delinsLeuSerHisMetGlyProValLysGlyGlnIleLeuMetArgLeuValGluGluLysAlaProAlaCysValLeuGluLeuGlyThrTyrCysGlyTyrSerThrLeuLeuIleAlaArgAlaLeuProProGlyGlyArgLeuLeuThrValGluArgAspProArgThrAlaAlaValAlaGluLysLeuIleArgLeuAlaGlyPheAspGluHisMetValGluLeuIleValGlySerSerGluAspValIleProCysLeuArgThrGlnTyrGlnLeuSerArgAlaAspLeuValLeuLeuAlaHisArgProArgCysTyrLeuArgAspLeuGlnLeuLeuGluAlaHisAlaLeuLeuProAlaGlyAlaThrValLeuAlaAspHisValLeuPheProGlyAlaProArgPheLeuGlnTyrAlaLysSerCysGlyArgTyrArgCysArgLeuHisHisThrGlyLeuProAspPheProAlaIleLysAspGlyIleAlaGlnLeuThrTyrAlaGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000541899.3:c.234C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001393500.2:c.234C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494667.1:p.Tyr78Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001380429.1:p.Tyr78Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}