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      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Trp4115Ter",
        "hgvsWellDefined": "XP_024310156.1:p.Trp4115_Lys4295delinsLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14771,
          "referenceAllele": "G",
          "start": 14770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.11933G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Trp3978Ter",
        "hgvsWellDefined": "XP_024310157.1:p.Trp3978_Lys4158delinsLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389688",
      "coordinates": [
        {
          "allele": "A",
          "end": 13581,
          "referenceAllele": "G",
          "start": 13580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Trp4444Ter",
        "hgvsWellDefined": "NP_001360.1:p.Trp4444_Lys4624delinsLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13331G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13331G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Trp4444Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Trp4444Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}