{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5453327",
  "communityStandardTitle": [
    "NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243963[alleleid]",
        "alleleId": 243963,
        "preferredName": "NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242860",
        "RCV": [
          "RCV000234877"
        ],
        "variationId": 242860
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-28228909-C-A",
        "id": "10-28228909-C-A",
        "variant": "10:28228909 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.28228909C>A?assembly=hg19",
        "id": "chr10:g.28228909C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.27939980C>A?assembly=hg38",
        "id": "chr10:g.27939980C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771920114",
        "rs": 771920114
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-28228909-C-A?dataset=gnomad_r2_1",
        "id": "10-28228909-C-A",
        "variant": "10:28228909 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-27939980-C-A?dataset=gnomad_r4",
        "id": "10-27939980-C-A",
        "variant": "10:27939980 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 27939980,
          "referenceAllele": "C",
          "start": 27939979
        }
      ],
      "hgvs": [
        "NC_000010.11:g.27939980C>A",
        "CM000672.2:g.27939980C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 28228909,
          "referenceAllele": "C",
          "start": 28228908
        }
      ],
      "hgvs": [
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        "CM000672.1:g.28228909C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 28268915,
          "referenceAllele": "C",
          "start": 28268914
        }
      ],
      "hgvs": [
        "NC_000010.9:g.28268915C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64071,
          "referenceAllele": "G",
          "start": 64070
        }
      ],
      "hgvs": [
        "NG_042820.1:g.64071G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
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          "start": 2137
        }
      ],
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      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000305242.10:c.2014G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000306410.5:p.Glu672_Thr1044delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305242.10:c.2014G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018076.5:c.2014G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306410.5:p.Glu672Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060546.2:p.Glu672Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000672841.1:c.1090G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000499983.1:p.Glu364_Thr736delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000672877.1:c.589G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000500120.1:p.Glu197_Ile612delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
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      "geneSymbol": "ODAD2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000500856.1:p.Glu364_Ser705delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLysAsnIlePheIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2112,
          "referenceAllele": "G",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000500782.1:p.Glu672Ter",
        "hgvsWellDefined": "ENSP00000500782.1:p.Glu672_Thr1044delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000306410.5:p.Glu672_Thr1044delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772582",
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "G",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
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      "geneSymbol": "ODAD2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001276949.1:p.Glu672Ter",
        "hgvsWellDefined": "NP_001276949.1:p.Glu672_Thr1044delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772788",
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
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      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290021.1:c.589G>T"
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      "proteinEffect": {
        "hgvs": "NP_001276950.1:p.Glu197Ter",
        "hgvsWellDefined": "NP_001276950.1:p.Glu197_Ile612delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001312689.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299618.1:p.Glu364Ter",
        "hgvsWellDefined": "NP_001299618.1:p.Glu364_Thr736delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645395326",
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_018076.3:c.2014G>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645395326",
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "G",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_018076.4:c.2014G>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011517828.1:p.Glu672_Thr1064delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "G",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011517829.1:p.Glu672_Thr1064delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2806,
          "referenceAllele": "G",
          "start": 2805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011517830.1:p.Glu672_Thr1064delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011517831.1:p.Glu672_Thr1064delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011517832.1:p.Glu672_Ser1022delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysGluGluLysAsnValGlyValAlaTyrTrpValLeuValGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519531.1:c.2014G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517833.1:p.Glu672Ter",
        "hgvsWellDefined": "XP_011517833.1:p.Glu672_Ile1015delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysIleLeuTyrValSerLeuSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "G",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519532.1:c.1804G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517834.1:p.Glu602Ter",
        "hgvsWellDefined": "XP_011517834.1:p.Glu602_Thr994delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1331,
          "referenceAllele": "G",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519533.1:c.1090G>T"
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS581633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "proteinEffect": {
        "hgvs": "XP_024303822.1:p.Glu602Ter",
        "hgvsWellDefined": "XP_024303822.1:p.Glu602_Thr1037delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448055.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303823.1:p.Glu364Ter",
        "hgvsWellDefined": "XP_024303823.1:p.Glu364_Thr799delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448056.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303824.1:p.Glu364Ter",
        "hgvsWellDefined": "XP_024303824.1:p.Glu364_Thr799delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "G",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448057.1:c.928G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303825.1:p.Glu310Ter",
        "hgvsWellDefined": "XP_024303825.1:p.Glu310_Thr745delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448058.1:c.589G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303826.1:p.Glu197Ter",
        "hgvsWellDefined": "XP_024303826.1:p.Glu197_Thr632delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetTrpGlyLeuThrLeuSerSerArgLeuLysTyrSerGlyMetMetArgGlyHisCysSerLeuLysLeuLeuGlySerSerAspProProAsnPheValPhePheArgSerArgLysLeuArgAsnArgIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysAlaThrGlnArgGluAspAspGluAspGluAspLeuTyrAspAspProLeuProLeuAsnLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772582",
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290020.2:c.2014G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276949.1:p.Glu672Ter",
        "hgvsWellDefined": "NP_001276949.1:p.Glu672_Thr1044delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772788",
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290021.2:c.589G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276950.1:p.Glu197Ter",
        "hgvsWellDefined": "NP_001276950.1:p.Glu197_Ile612delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001312689.2:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299618.1:p.Glu364Ter",
        "hgvsWellDefined": "NP_001299618.1:p.Glu364_Thr736delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684094"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645395326",
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_018076.5:c.2014G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060546.2:p.Glu672Ter",
        "hgvsWellDefined": "NP_060546.2:p.Glu672_Thr1044delinsArgIleIleGluAsnLeuValLysAsnLeuAsnSerGluAsnGluGlnLeuGlnGluHisCysAlaMetAlaIleTyrGlnCysAlaGluAspLysGluThrArgAspLeuValArgLeuHisGlyGlyLeuLysProLeuAlaSerLeuLeuAsnAsnThrAspAsnLysGluArgLeuAlaAlaValThrGlyAlaIleTrpLysCysSerIleSerLysGluAsnValThrLysPheArgGluTyrLysAlaIleGluThrLeuValGlyLeuLeuThrAspGlnProGluGluValLeuValAsnValValGlyAlaLeuGlyGluCysCysGlnGluArgGluAsnArgValIleValArgLysCysGlyGlyIleGlnProLeuValAsnLeuLeuValGlyIleAsnGlnAlaLeuLeuValAsnValThrLysAlaValGlyAlaCysAlaValGluProGluSerMetMetIleIleAspArgLeuAspGlyValArgLeuLeuTrpSerLeuLeuLysAsnProHisProAspValLysAlaSerAlaAlaTrpAlaLeuCysProCysIleLysAsnAlaLysAspAlaGlyGluMetValArgSerPheValGlyGlyLeuGluLeuIleValAsnLeuLeuLysSerAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305242.10:c.2014G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018076.5:c.2014G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306410.5:p.Glu672Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060546.2:p.Glu672Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}