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      "proteinEffect": {
        "hgvs": "NP_060666.1:p.Trp2Ter",
        "hgvsWellDefined": "NP_060666.1:p.Trp2_Ala421delinsTyrHisArgLeuSerHisLeuHisSerArgLeuGlnAspLeuLeuLysGlyGlyValIleTyrProAlaLeuProGlnProAsnPheLysSerLeuLeuProLeuAlaValHisTrpHisHisThrAlaSerLysSerLeuThrCysAlaTrpGlnGlnHisGluAspHisPheGluLeuLysTyrAlaAsnThrValMetArgPheAspTyrValTrpLeuArgAspHisCysArgSerAlaSerCysTyrAsnSerLysThrHisGlnArgSerLeuAspThrAlaSerValAspLeuCysIleLysProLysThrIleArgLeuAspGluThrThrLeuPhePheThrTrpProAspGlyHisValThrLysTyrAspLeuAsnTrpLeuValLysAsnSerTyrGluGlyGlnLysGlnLysValIleGlnProArgIleLeuTrpAsnAlaGluIleTyrGlnGlnAlaGlnValProSerValAspCysGlnSerPheLeuGluThrAsnGluGlyLeuLysLysPheLeuGlnAsnPheLeuLeuTyrGlyIleAlaPheValGluAsnValProProThrGlnGluHisThrGluLysLeuAlaGluArgIleSerLeuIleArgGluThrIleTyrGlyArgMetTrpTyrPheThrSerAspPheSerArgGlyAspThrAlaTyrThrLysLeuAlaLeuAspArgHisThrAspThrThrTyrPheGlnGluProCysGlyIleGlnValPheHisCysLeuLysHisGluGlyThrGlyGlyArgThrLeuLeuValAspGlyPheTyrAlaAlaGluGlnValLeuGlnLysAlaProGluGluPheGluLeuLeuSerLysValProLeuLysHisGluTyrIleGluAspValGlyGluCysHisAsnHisMetIleGlyIleGlyProValLeuAsnIleTyrProTrpAsnLysGluLeuTyrLeuIleArgTyrAsnAsnTyrAspArgAlaValIleAsnThrValProTyrAspValValHisArgTrpTyrThrAlaHisArgThrLeuThrIleGluLeuArgArgProGluAsnGluPheTrpValLysLeuLysProGlyArgValLeuPheIleAspAsnTrpArgValLeuHisGlyArgGluCysPheThrGlyTyrArgGlnLeuCysGlyCysTyrLeuThrArgAspAspValLeuAsnThrAlaArgLeuLeuGlyLeuGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334398.8:c.5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018196.4:c.5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000335261.3:p.Trp2Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060666.1:p.Trp2Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826146969",
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "G",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018308",
      "geneNCBI_id": 55217,
      "geneSymbol": "TMLHE",
      "hgvs": [
        "NM_001184797.2:c.5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171726.1:p.Trp2Ter",
        "hgvsWellDefined": "NP_001171726.1:p.Trp2_Ile376delinsTyrHisArgLeuSerHisLeuHisSerArgLeuGlnAspLeuLeuLysGlyGlyValIleTyrProAlaLeuProGlnProAsnPheLysSerLeuLeuProLeuAlaValHisTrpHisHisThrAlaSerLysSerLeuThrCysAlaTrpGlnGlnHisGluAspHisPheGluLeuLysTyrAlaAsnThrValMetArgPheAspTyrValTrpLeuArgAspHisCysArgSerAlaSerCysTyrAsnSerLysThrHisGlnArgSerLeuAspThrAlaSerValAspLeuCysIleLysProLysThrIleArgLeuAspGluThrThrLeuPhePheThrTrpProAspGlyHisValThrLysTyrAspLeuAsnTrpLeuValLysAsnSerTyrGluGlyGlnLysGlnLysValIleGlnProArgIleLeuTrpAsnAlaGluIleTyrGlnGlnAlaGlnValProSerValAspCysGlnSerPheLeuGluThrAsnGluGlyLeuLysLysPheLeuGlnAsnPheLeuLeuTyrGlyIleAlaPheValGluAsnValProProThrGlnGluHisThrGluLysLeuAlaGluArgIleSerLeuIleArgGluThrIleTyrGlyArgMetTrpTyrPheThrSerAspPheSerArgGlyAspThrAlaTyrThrLysLeuAlaLeuAspArgHisThrAspThrThrTyrPheGlnGluProCysGlyIleGlnValPheHisCysLeuLysHisGluGlyThrGlyGlyArgThrLeuLeuValAspGlyPheTyrAlaAlaGluGlnValLeuGlnLysAlaProGluGluPheGluLeuLeuSerLysValProLeuLysHisGluTyrIleGluAspValGlyGluCysHisAsnHisMetIleGlyIleGlyProValLeuAsnIleTyrProTrpAsnLysGluLeuTyrLeuIleArgLeuPheLysGluLysGlnAsnThrValAsnArgGlnTrpAsnSerSerLeuGlnCysAspIleProGluArgIleLeuThrTyrArgHisPheValSerGlyThrSerIleGluHisArgGlySerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679007"
    }
  ],
  "type": "nucleotide"
}