{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390051395",
  "communityStandardTitle": [
    "NM_021728.4(OTX2):c.655C>T (p.Gln219Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2969313[alleleid]",
        "alleleId": 2969313,
        "preferredName": "NM_021728.4(OTX2):c.655C>T (p.Gln219Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2812075",
        "RCV": [
          "RCV003646251"
        ],
        "variationId": 2812075
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.57268692G>A?assembly=hg19",
        "id": "chr14:g.57268692G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.56801974G>A?assembly=hg38",
        "id": "chr14:g.56801974G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754929157",
        "rs": 754929157
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 56801974,
          "referenceAllele": "G",
          "start": 56801973
        }
      ],
      "hgvs": [
        "NC_000014.9:g.56801974G>A",
        "CM000676.2:g.56801974G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 57268692,
          "referenceAllele": "G",
          "start": 57268691
        }
      ],
      "hgvs": [
        "NC_000014.8:g.57268692G>A",
        "CM000676.1:g.57268692G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 56338445,
          "referenceAllele": "G",
          "start": 56338444
        }
      ],
      "hgvs": [
        "NC_000014.7:g.56338445G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13493,
          "referenceAllele": "C",
          "start": 13492
        }
      ],
      "hgvs": [
        "NG_008204.1:g.13493C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19720,
          "referenceAllele": "C",
          "start": 19719
        }
      ],
      "hgvs": [
        "NG_008204.2:g.19720C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000554845.2:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451357.2:p.Gln219Ter",
        "hgvsWellDefined": "ENSP00000451357.2:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000555804.2:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451272.2:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000451272.2:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000685244.1:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508798.1:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000508798.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000339475.10:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343819.5:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000343819.5:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000408990.8:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386185.3:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000386185.3:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "endIntronDirection": "-",
          "endIntronOffset": 92,
          "referenceAllele": "C",
          "start": 707,
          "startIntronDirection": "-",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000672125.1:c.361-93C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500744.1:n.361-93C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000672264.2:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500115.1:p.Gln219Ter",
        "hgvsWellDefined": "ENSP00000500115.1:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000672264.2:c.655C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021728.4:c.655C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000500115.1:p.Gln219Ter"
          },
          "RefSeq": {
            "hgvs": "NP_068374.1:p.Gln219Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000673035.1:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500061.1:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000500061.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000673481.1:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500595.1:p.Gln219Ter",
        "hgvsWellDefined": "ENSP00000500595.1:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000339475.9:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343819.4:p.Gln219Ter",
        "hgvsWellDefined": "ENSP00000343819.4:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000408990.7:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386185.3:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000386185.3:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000554788.5:c.*371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474486.1:n.*371C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000554845.1:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451357.1:p.Gln219Ter",
        "hgvsWellDefined": "ENSP00000451357.1:p.Gln219_Leu239del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "ENST00000555006.5:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452336.1:p.Gln211Ter",
        "hgvsWellDefined": "ENSP00000452336.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826523910",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270523.1:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257452.1:p.Gln211Ter",
        "hgvsWellDefined": "NP_001257452.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524249",
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270524.1:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257453.1:p.Gln211Ter",
        "hgvsWellDefined": "NP_001257453.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524523",
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270525.1:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257454.1:p.Gln219Ter",
        "hgvsWellDefined": "NP_001257454.1:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741979621",
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_021728.3:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068374.1:p.Gln219Ter",
        "hgvsWellDefined": "NP_068374.1:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830351178",
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_172337.2:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758840.1:p.Gln211Ter",
        "hgvsWellDefined": "NP_758840.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073034.1:n.763C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.1:n.686C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826523910",
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270523.2:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257452.1:p.Gln211Ter",
        "hgvsWellDefined": "NP_001257452.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524249",
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270524.2:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257453.1:p.Gln211Ter",
        "hgvsWellDefined": "NP_001257453.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826524523",
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_001270525.2:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257454.1:p.Gln219Ter",
        "hgvsWellDefined": "NP_001257454.1:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741979621",
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_021728.4:c.655C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068374.1:p.Gln219Ter",
        "hgvsWellDefined": "NP_068374.1:p.Gln219_Leu297delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000672264.2:c.655C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021728.4:c.655C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000500115.1:p.Gln219Ter"
          },
          "RefSeq": {
            "hgvs": "NP_068374.1:p.Gln219Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830351178",
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_172337.3:c.631C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758840.1:p.Gln211Ter",
        "hgvsWellDefined": "NP_758840.1:p.Gln211_Leu289delinsLeuProGlyProGlyAlaThrLeuSerProMetGlyThrAsnAlaValThrSerHisLeuAsnGlnSerProAlaSerLeuSerThrGlnGlyTyrGlyAlaSerSerLeuGlyPheAsnSerThrThrAspCysLeuAspTyrLysAspGlnThrAlaSerTrpLysLeuAsnPheAsnAlaAspCysLeuAspTyrLysAspGlnThrSerSerTrpLysPheGlnValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073034.2:n.766C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.2:n.690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702648"
    }
  ],
  "type": "nucleotide"
}