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        "hgvs": "NP_001257453.1:p.Ser138Ter",
        "hgvsWellDefined": "NP_001257453.1:p.Ser138_Leu289delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524445",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270525.1:c.437C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257454.1:p.Ser146Ter",
        "hgvsWellDefined": "NP_001257454.1:p.Ser146_Leu297delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916059604",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_021728.3:c.437C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068374.1:p.Ser146Ter",
        "hgvsWellDefined": "NP_068374.1:p.Ser146_Leu297delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213016",
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "C",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_172337.2:c.413C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758840.1:p.Ser138Ter",
        "hgvsWellDefined": "NP_758840.1:p.Ser138_Leu289delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073034.1:n.545C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.1:n.468C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826523819",
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270523.2:c.413C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257452.1:p.Ser138Ter",
        "hgvsWellDefined": "NP_001257452.1:p.Ser138_Leu289delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524154",
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270524.2:c.413C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257453.1:p.Ser138Ter",
        "hgvsWellDefined": "NP_001257453.1:p.Ser138_Leu289delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524445",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270525.2:c.437C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257454.1:p.Ser146Ter",
        "hgvsWellDefined": "NP_001257454.1:p.Ser146_Leu297delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916059604",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_021728.4:c.437C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068374.1:p.Ser146Ter",
        "hgvsWellDefined": "NP_068374.1:p.Ser146_Leu297delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000672264.2:c.437C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021728.4:c.437C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000500115.1:p.Ser146Ter"
          },
          "RefSeq": {
            "hgvs": "NP_068374.1:p.Ser146Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA213016",
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_172337.3:c.413C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758840.1:p.Ser138Ter",
        "hgvsWellDefined": "NP_758840.1:p.Ser138_Leu289delinsValProThrIleAlaSerSerSerAlaProValSerIleTrpSerProAlaSerIleSerProLeuSerAspProLeuSerThrSerSerSerCysMetGlnArgSerTyrProMetThrTyrThrGlnAlaSerGlyTyrSerGlnGlyTyrAlaGlySerThrSerTyrPheGlyGlyMetAspCysGlySerTyrLeuThrProMetHisHisGlnLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073034.2:n.548C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.2:n.472C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702648"
    }
  ],
  "type": "nucleotide"
}