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            "hgvs": "ENST00000383788.10:c.506C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005677.4:c.506C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373298.3:p.Ser169Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005668.2:p.Ser169Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830156802",
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002226",
      "geneNCBI_id": 8292,
      "geneSymbol": "COLQ",
      "hgvs": [
        "NM_080539.4:c.404C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536800.2:p.Ser135Ter",
        "hgvsWellDefined": "NP_536800.2:p.Ser135_Thr421delinsArgGlyProMetGlySerLysGlyTyrProGlySerArgGlyGluLysGlySerArgGlyGluLysGlyAspLeuGlyProLysGlyGluLysGlyPheProGlyPheProGlyMetLeuGlyGlnLysGlyGluMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699512"
    }
  ],
  "type": "nucleotide"
}