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          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Gln51Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4066,
          "referenceAllele": "C",
          "start": 4065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.3823C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Gln1275Ter",
        "hgvsWellDefined": "XP_011538355.1:p.Gln1277_Leu2042delinsTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrGlyValIleThrValGlnGlyLeuValAspArgGluLysGlyAspPheTyrThrLeuThrValValAlaAspAspGlyGlyProLysValAspSerThrValLysValTyrIleThrValLeuAspGluAsnAspAsnSerProArgPheAspPheThrSerAspSerAlaValSerIleProGluAspCysProValGlyGlnArgValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaAlaGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4066,
          "referenceAllele": "C",
          "start": 4065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.4066C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 7211,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 7210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.2:c.-6+7211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.-6+7211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092929",
      "coordinates": [
        {
          "allele": "T",
          "end": 4032,
          "referenceAllele": "C",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.3628C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Gln1210Ter",
        "hgvsWellDefined": "NP_001165401.1:p.Gln1212_Ile1381delinsTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4032,
          "referenceAllele": "C",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.3628C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Gln1210Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3628C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3628C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Gln1210Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Gln1210Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}