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      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Gln403Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Gln403Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.1267C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Gln423Ter",
        "hgvsWellDefined": "NP_001171485.1:p.Gln423_Leu559delinsGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}