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      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_000311.5:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000302.1:p.Gln160Ter",
        "hgvsWellDefined": "NP_000302.1:p.Gln160_Gly253delinsValTyrTyrArgProMetAspGluTyrSerAsnGlnAsnAsnPheValHisAspCysValAsnIleThrIleLysGlnHisThrValThrThrThrThrLysGlyGluAsnPheThrGluThrAspValLysMetMetGluArgValValGluGlnMetCysIleThrGlnTyrGluArgGluSerGlnAlaTyrTyrGlnArgGlySerSerMetValLeuPheSerSerProProValIleLeuLeuIleSerPheLeuIlePheLeuIleValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379440.9:c.478C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000311.5:c.478C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368752.4:p.Gln160Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000302.1:p.Gln160Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464186",
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080121.3:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073590.1:p.Gln160Ter",
        "hgvsWellDefined": "NP_001073590.1:p.Gln160_Gly253delinsValTyrTyrArgProMetAspGluTyrSerAsnGlnAsnAsnPheValHisAspCysValAsnIleThrIleLysGlnHisThrValThrThrThrThrLysGlyGluAsnPheThrGluThrAspValLysMetMetGluArgValValGluGlnMetCysIleThrGlnTyrGluArgGluSerGlnAlaTyrTyrGlnArgGlySerSerMetValLeuPheSerSerProProValIleLeuLeuIleSerPheLeuIlePheLeuIleValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464331",
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080122.3:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073591.1:p.Gln160Ter",
        "hgvsWellDefined": "NP_001073591.1:p.Gln160_Gly253delinsValTyrTyrArgProMetAspGluTyrSerAsnGlnAsnAsnPheValHisAspCysValAsnIleThrIleLysGlnHisThrValThrThrThrThrLysGlyGluAsnPheThrGluThrAspValLysMetMetGluArgValValGluGlnMetCysIleThrGlnTyrGluArgGluSerGlnAlaTyrTyrGlnArgGlySerSerMetValLeuPheSerSerProProValIleLeuLeuIleSerPheLeuIlePheLeuIleValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464456",
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080123.3:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073592.1:p.Gln160Ter",
        "hgvsWellDefined": "NP_001073592.1:p.Gln160_Gly253delinsValTyrTyrArgProMetAspGluTyrSerAsnGlnAsnAsnPheValHisAspCysValAsnIleThrIleLysGlnHisThrValThrThrThrThrLysGlyGluAsnPheThrGluThrAspValLysMetMetGluArgValValGluGlnMetCysIleThrGlnTyrGluArgGluSerGlnAlaTyrTyrGlnArgGlySerSerMetValLeuPheSerSerProProValIleLeuLeuIleSerPheLeuIlePheLeuIleValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001271561.3:c.*167C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258490.1:n.*167C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052509",
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_183079.4:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898902.1:p.Gln160Ter",
        "hgvsWellDefined": "NP_898902.1:p.Gln160_Gly253delinsValTyrTyrArgProMetAspGluTyrSerAsnGlnAsnAsnPheValHisAspCysValAsnIleThrIleLysGlnHisThrValThrThrThrThrLysGlyGluAsnPheThrGluThrAspValLysMetMetGluArgValValGluGlnMetCysIleThrGlnTyrGluArgGluSerGlnAlaTyrTyrGlnArgGlySerSerMetValLeuPheSerSerProProValIleLeuLeuIleSerPheLeuIlePheLeuIleValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701163"
    }
  ],
  "type": "nucleotide"
}