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          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.1:c.655G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Gly219Ter",
        "hgvsWellDefined": "NP_001350672.1:p.Gly220_Trp330delinsAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Gly262Ter",
        "hgvsWellDefined": "XP_005273561.1:p.Gly263_Trp373delinsAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA185928",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.850G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Gly284Ter",
        "hgvsWellDefined": "NP_808592.2:p.Gly285_Trp395delinsAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.850G>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.850G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Gly284Ter"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Gly284Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624863",
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.832G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Gly278Ter",
        "hgvsWellDefined": "NP_001120977.1:p.Gly279_Trp389delinsAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108614",
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.655G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Gly219Ter",
        "hgvsWellDefined": "NP_001350672.1:p.Gly220_Trp330delinsAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA185929",
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Gly300Ter",
        "hgvsWellDefined": "NP_004306.3:p.Gly301_Trp411delinsAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}