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        "hgvsWellDefined": "NP_001020114.1:p.Leu325_Ala464delinsGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "T",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.918+156T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:n.918+156T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338859",
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "T",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.896T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Leu299Ter",
        "hgvsWellDefined": "NP_001020117.1:p.Leu299_Ala438delinsGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028535",
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "T",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.974T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Leu325Ter",
        "hgvsWellDefined": "NP_000039.2:p.Leu325_Ala464delinsGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.974T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.974T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Leu325Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Leu325Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580132909",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.974T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Leu325Ter",
        "hgvsWellDefined": "NP_001020114.1:p.Leu325_Ala464delinsGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "T",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.918+156T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:n.918+156T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338859",
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "T",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.896T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Leu299Ter",
        "hgvsWellDefined": "NP_001020117.1:p.Leu299_Ala438delinsGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}