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        "hgvsWellDefined": "NP_068374.1:p.Tyr197_Leu297delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_758840.1:p.Tyr189_Leu289delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS042722"
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    {
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      "gene": "http://reg.genome.network/gene/GN008522",
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      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.1:n.622T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS052439"
    },
    {
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      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN008522",
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      "geneSymbol": "OTX2",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001257452.1:p.Tyr189_Leu289delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524236",
      "coordinates": [
        {
          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN008522",
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      "geneSymbol": "OTX2",
      "hgvs": [
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        "hgvsWellDefined": "NP_001257453.1:p.Tyr189_Leu289delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524497",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001257454.1:p.Tyr197_Leu297delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580429649",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_068374.1:p.Tyr197_Leu297delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000672264.2:c.591T>G"
          },
          "RefSeq": {
            "hgvs": "NM_021728.4:c.591T>G"
          }
        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NP_068374.1:p.Tyr197Ter"
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        }
      }
    },
    {
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      "gene": "http://reg.genome.network/gene/GN008522",
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      "hgvs": [
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        "hgvsWellDefined": "NP_758840.1:p.Tyr189_Leu289delinsAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700522"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702647"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN008522",
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      "referenceSequence": "http://reg.genome.network/refseq/RS702648"
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  ],
  "type": "nucleotide"
}