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          "allele": "T",
          "end": 13736,
          "referenceAllele": "C",
          "start": 13735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13486C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg4496Ter",
        "hgvsWellDefined": "NP_001360.1:p.Arg4496_Lys4624delinsGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13486C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13486C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg4496Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg4496Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}