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      "@id": "http://reg.genome.network/allele/PA645388199",
      "coordinates": [
        {
          "allele": "G",
          "end": 2827,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 2827,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        },
        {
          "allele": "T",
          "end": 5663,
          "referenceAllele": "C",
          "start": 5662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.[2577+5T>G;5413C>T]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg1805Cys",
        "hgvsWellDefined": "NP_001360.1:p.Arg1805Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.[2577+5T>G;5413C>T]"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.[2577+5T>G;5413C>T]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg1805Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg1805Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}