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        "hgvsWellDefined": "XP_011533047.1:p.Cys149_Pro286delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.1:c.447C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Cys149Ter",
        "hgvsWellDefined": "XP_011533048.1:p.Cys149_Pro286delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.1:c.447C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Cys149Ter",
        "hgvsWellDefined": "XP_011533049.1:p.Cys149_Val263delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.447C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Cys149Ter",
        "hgvsWellDefined": "XP_005266078.1:p.Cys149_Pro286delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.2:c.447C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Cys149Ter",
        "hgvsWellDefined": "XP_011533048.1:p.Cys149_Pro286delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.2:c.447C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Cys149Ter",
        "hgvsWellDefined": "XP_011533049.1:p.Cys149_Val263delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741971164",
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.447C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Cys149Ter",
        "hgvsWellDefined": "NP_061764.2:p.Cys149_Pro286delinsLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.447C>A"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.447C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Cys149Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Cys149Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}