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        "hgvs": "NP_001361425.1:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139706914",
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.3:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Gln145Ter",
        "hgvsWellDefined": "NP_004928.2:p.Gln145_Asn367delinsValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyTyrAspGlnLeuAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.433C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.433C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Gln145Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Gln145Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347857",
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.3:c.433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Gln145Ter",
        "hgvsWellDefined": "NP_001026851.2:p.Gln145_Gly400delinsValIleMetAsnTrpArgArgLysSerValIleGlyLeuSerPheAspPheValAlaLeuAsnLeuThrGlyPheValAlaTyrSerValPheAsnIleGlyLeuLeuTrpValProTyrIleLysGluGlnPheLeuLeuLysTyrProAsnGlyValAsnProValAsnSerAsnAspValPhePheSerLeuHisAlaValValLeuThrLeuIleIleIleValGlnCysCysLeuTyrGluArgGlyGlyGlnArgValSerTrpProAlaIleGlyPheLeuValLeuAlaTrpLeuPheAlaPheValThrMetIleValAlaAlaValGlyValThrThrTrpLeuGlnPheLeuPheCysPheSerTyrIleLysLeuAlaValThrLeuValLysTyrPheProGlnAlaTyrMetAsnPheTyrTyrLysSerThrGluGlyTrpSerIleGlyAsnValLeuLeuAspPheThrGlyGlySerPheSerLeuLeuGlnMetPheLeuGlnSerTyrAsnAsnAspGlnTrpThrLeuIlePheGlyAspProThrLysPheGlyLeuGlyValPheSerIleValPheAspValValPhePheIleGlnHisPheCysLeuTyrArgLysArgProGlyLeuGlnAlaAlaArgThrGlySerGlySerArgLeuArgGlnAspTrpAlaProSerLeuGlnProLysAlaLeuProGlnThrThrSerValSerAlaSerSerLeuLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
    }
  ],
  "type": "nucleotide"
}