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      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Glu73Ter",
        "hgvsWellDefined": "NP_001350672.1:p.Glu73_Trp330delinsLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525066",
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.460G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Glu154Ter",
        "hgvsWellDefined": "NP_004306.3:p.Glu154_Trp411delinsLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}