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        "NM_001363743.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_001350672.1:p.Arg231_Trp330delinsAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Arg274Ter",
        "hgvsWellDefined": "XP_005273561.1:p.Arg274_Trp373delinsAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369083",
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Arg296Ter",
        "hgvsWellDefined": "NP_808592.2:p.Arg296_Trp395delinsAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.886C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.886C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Arg296Ter"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Arg296Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624883",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Arg290Ter",
        "hgvsWellDefined": "NP_001120977.1:p.Arg290_Trp389delinsAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108624",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_001350672.1:p.Arg231_Trp330delinsAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011589",
      "coordinates": [
        {
          "allele": "T",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Arg312Ter",
        "hgvsWellDefined": "NP_004306.3:p.Arg312_Trp411delinsAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}