{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270067",
  "communityStandardTitle": [
    "NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5016805",
        "active": true,
        "id": "COSM5016805"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152831[alleleid]",
        "alleleId": 152831,
        "preferredName": "NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143113",
        "RCV": [
          "RCV000132634",
          "RCV001212734",
          "RCV001826795",
          "RCV003905241",
          "RCV003888557"
        ],
        "variationId": 143113
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.64472413A>T?assembly=hg19",
        "id": "chr6:g.64472413A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.63762520A>T?assembly=hg38",
        "id": "chr6:g.63762520A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236076",
        "rs": 527236076
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-64472413-A-T?dataset=gnomad_r2_1",
        "id": "6-64472413-A-T",
        "variant": "6:64472413 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-63762520-A-T?dataset=gnomad_r4",
        "id": "6-63762520-A-T",
        "variant": "6:63762520 A / T"
      }
    ]
  },
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    {
      "chromosome": "6",
      "coordinates": [
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          "allele": "T",
          "end": 63762520,
          "referenceAllele": "A",
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        }
      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 64472413,
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          "start": 64472412
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 64530372,
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          "start": 64530371
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS003870"
    },
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS616268"
    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000503581.6:c.8012T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001142800.2:c.8012T>A"
          }
        },
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            "hgvs": "ENSP00000424243.1:p.Leu2671Ter"
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            "hgvs": "NP_001136272.1:p.Leu2671Ter"
          }
        }
      }
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    {
      "coordinates": [
        {
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          "end": 8012,
          "referenceAllele": "T",
          "start": 8011
        }
      ],
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      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370616.6:c.8012T>A"
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      "proteinEffect": {
        "hgvs": "ENSP00000359650.2:p.Leu2671Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8012,
          "referenceAllele": "T",
          "start": 8011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000359652.4:p.Leu2671_Thr3144delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8539,
          "referenceAllele": "T",
          "start": 8538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370621.7:c.8012T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359655.3:p.Leu2671Ter",
        "hgvsWellDefined": "ENSP00000359655.3:p.Leu2671_Thr3165delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuIleLeuIleValIleLeuGluLysProLysProAlaGluArgLysValLysLysGluAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "T",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000398580.3:c.1326T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8550,
          "referenceAllele": "T",
          "start": 8549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000503581.5:c.8012T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424243.1:p.Leu2671Ter",
        "hgvsWellDefined": "ENSP00000424243.1:p.Leu2671_Thr3144delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "-",
          "endIntronOffset": 15545,
          "referenceAllele": "A",
          "start": 363,
          "startIntronDirection": "-",
          "startIntronOffset": 15546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008921",
      "geneNCBI_id": 23469,
      "geneSymbol": "PHF3",
      "hgvs": [
        "ENST00000505138.1:c.364-15546A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270068",
      "coordinates": [
        {
          "allele": "A",
          "end": 8550,
          "referenceAllele": "T",
          "start": 8549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001142800.1:c.8012T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136272.1:p.Leu2671Ter",
        "hgvsWellDefined": "NP_001136272.1:p.Leu2671_Thr3144delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013071"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018572",
      "coordinates": [
        {
          "allele": "A",
          "end": 8550,
          "referenceAllele": "T",
          "start": 8549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.1:c.8012T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Leu2671Ter",
        "hgvsWellDefined": "NP_001278938.1:p.Leu2671_Thr3165delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuIleLeuIleValIleLeuGluLysProLysProAlaGluArgLysValLysLysGluAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270068",
      "coordinates": [
        {
          "allele": "A",
          "end": 8551,
          "referenceAllele": "T",
          "start": 8550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001142800.2:c.8012T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136272.1:p.Leu2671Ter",
        "hgvsWellDefined": "NP_001136272.1:p.Leu2671_Thr3144delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503581.6:c.8012T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001142800.2:c.8012T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424243.1:p.Leu2671Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001136272.1:p.Leu2671Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018572",
      "coordinates": [
        {
          "allele": "A",
          "end": 8551,
          "referenceAllele": "T",
          "start": 8550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.2:c.8012T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Leu2671Ter",
        "hgvsWellDefined": "NP_001278938.1:p.Leu2671_Thr3165delinsProHisGlyTyrThrCysPheCysProLeuGlyThrThrGlyIleTyrCysGluGlnAlaLeuIleLeuIleValIleLeuGluLysProLysProAlaGluArgLysValLysLysGluAlaLeuSerIleSerAspProSerPheArgSerAsnGluLeuSerTrpMetSerPheAlaSerPheHisValArgLysLysThrHisIleGlnLeuGlnPheGlnProLeuAlaAlaAspGlyIleLeuPheTyrAlaAlaGlnHisLeuLysAlaGlnSerGlyAspPheLeuCysIleSerLeuValAsnSerSerValGlnLeuArgTyrAsnLeuGlyAspArgThrIleIleLeuGluThrLeuGlnLysValThrIleAsnGlySerThrTrpHisIleIleLysAlaGlyArgValGlyAlaGluGlyTyrLeuAspLeuAspGlyIleAsnValThrGluLysAlaSerThrLysMetSerSerLeuAspThrAsnThrAspPheTyrIleGlyGlyValSerSerLeuAsnLeuValAsnProMetAlaIleGluAsnGluProValGlyPheGlnGlyCysIleArgGlnValIleIleAsnAsnGlnGluLeuGlnLeuThrGluPheGlyAlaLysGlyGlySerAsnValGlyAspCysAspGlyThrAlaCysGlyTyrAsnThrCysArgAsnGlyGlyGluCysThrValAsnGlyThrThrPheSerCysArgCysLeuProAspTrpAlaGlyAsnThrCysAsnGlnSerValSerCysLeuAsnAsnLeuCysLeuHisGlnSerLeuCysIleProAspGlnSerPheSerTyrSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716738"
    }
  ],
  "type": "nucleotide"
}