{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388397024",
  "communityStandardTitle": [
    "NM_005845.5(ABCC4):c.2269G>T (p.Glu757Ter)"
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      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.95815415C>A?assembly=hg19",
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        "@id": "http://myvariant.info/v1/variant/chr13:g.95163161C>A?assembly=hg38",
        "id": "chr13:g.95163161C>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3765534",
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        {
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          "referenceAllele": "C",
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        "CM000675.2:g.95163161C>A"
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      "referenceGenome": "GRCh38",
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      "chromosome": "13",
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      "referenceGenome": "GRCh37",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS616767"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS767063"
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS767344"
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS767489"
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    {
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      "hgvs": [
        "ENST00000643842.1:c.*2315G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767503"
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      "referenceSequence": "http://reg.genome.network/refseq/RS768238",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000645237.2:c.2269G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.2269G>T"
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        }
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      "coordinates": [
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          "allele": "T",
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          "start": 2132
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "G",
          "start": 2383
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000487081.1:p.Glu757_Ser859delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnArgTrpAspLeuAlaValLeuSerTrpLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN000055",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001098985.1:p.Glu757Ter",
        "hgvsWellDefined": "NP_001098985.1:p.Glu757_Ser859delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnArgTrpAspLeuAlaValLeuSerTrpLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2260,
          "referenceAllele": "G",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
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      "geneSymbol": "ABCC4",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001288758.1:p.Glu710Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "G",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301830.1:c.2044G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288759.1:p.Glu682Ter",
        "hgvsWellDefined": "NP_001288759.1:p.Glu682_Ser784delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnArgTrpAspLeuAlaValLeuSerTrpLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622731",
      "coordinates": [
        {
          "allele": "T",
          "end": 2401,
          "referenceAllele": "G",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.4:c.2269G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:p.Glu757Ter",
        "hgvsWellDefined": "NP_005836.2:p.Glu757_Leu1325delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "G",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_005254025.2:c.2140G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254082.1:p.Glu714Ter",
        "hgvsWellDefined": "XP_005254082.1:p.Glu714_Leu1282delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2306,
          "referenceAllele": "G",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_006719914.1:c.2179G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719977.1:p.Glu727Ter",
        "hgvsWellDefined": "XP_006719977.1:p.Glu727_Leu1295delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "G",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_011521047.1:c.1720G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519349.1:p.Glu574Ter",
        "hgvsWellDefined": "XP_011519349.1:p.Glu574_Leu1142delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2547,
          "referenceAllele": "G",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020319.1:c.2140G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875808.1:p.Glu714Ter",
        "hgvsWellDefined": "XP_016875808.1:p.Glu714_Leu1282delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2388,
          "referenceAllele": "G",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020320.2:c.2269G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875809.1:p.Glu757Ter",
        "hgvsWellDefined": "XP_016875809.1:p.Glu757_Arg830delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleValGluThrGlyPheTyrLeuLeuLeuValLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020321.1:c.754G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875810.1:p.Glu252Ter",
        "hgvsWellDefined": "XP_016875810.1:p.Glu252_Leu820delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2410,
          "referenceAllele": "G",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020322.1:c.2140G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875811.1:p.Glu714Ter",
        "hgvsWellDefined": "XP_016875811.1:p.Glu714_Ser816delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnArgTrpAspLeuAlaValLeuSerTrpLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "G",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001105515.3:c.2269G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098985.1:p.Glu757Ter",
        "hgvsWellDefined": "NP_001098985.1:p.Glu757_Ser859delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnArgTrpAspLeuAlaValLeuSerTrpLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.2:c.2128G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:p.Glu710Ter",
        "hgvsWellDefined": "NP_001288758.1:p.Glu710_Leu1278delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301830.2:c.2044G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288759.1:p.Glu682Ter",
        "hgvsWellDefined": "NP_001288759.1:p.Glu682_Ser784delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnArgTrpAspLeuAlaValLeuSerTrpLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683435"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622731",
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "G",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.5:c.2269G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:p.Glu757Ter",
        "hgvsWellDefined": "NP_005836.2:p.Glu757_Leu1325delinsLysLeuAspLeuAsnTrpTyrLeuGlyIleTyrSerGlyLeuThrValAlaThrValLeuPheGlyIleAlaArgSerLeuLeuValPheTyrValLeuValAsnSerSerGlnThrLeuHisAsnLysMetPheGluSerIleLeuLysAlaProValLeuPhePheAspArgAsnProIleGlyArgIleLeuAsnArgPheSerLysAspIleGlyHisLeuAspAspLeuLeuProLeuThrPheLeuAspPheIleGlnThrLeuLeuGlnValValGlyValValSerValAlaValAlaValIleProTrpIleAlaIleProLeuValProLeuGlyIleIlePheIlePheLeuArgArgTyrPheLeuGluThrSerArgAspValLysArgLeuGluSerThrThrArgSerProValPheSerHisLeuSerSerSerLeuGlnGlyLeuTrpThrIleArgAlaTyrLysAlaGluGluArgCysGlnGluLeuPheAspAlaHisGlnAspLeuHisSerGluAlaTrpPheLeuPheLeuThrThrSerArgTrpPheAlaValArgLeuAspAlaIleCysAlaMetPheValIleIleValAlaPheGlySerLeuIleLeuAlaLysThrLeuAspAlaGlyGlnValGlyLeuAlaLeuSerTyrAlaLeuThrLeuMetGlyMetPheGlnTrpCysValArgGlnSerAlaGluValGluAsnMetMetIleSerValGluArgValIleGluTyrThrAspLeuGluLysGluAlaProTrpGluTyrGlnLysArgProProProAlaTrpProHisGluGlyValIleIlePheAspAsnValAsnPheMetTyrSerProGlyGlyProLeuValLeuLysHisLeuThrAlaLeuIleLysSerGlnGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuIleSerAlaLeuPheArgLeuSerGluProGluGlyLysIleTrpIleAspLysIleLeuThrThrGluIleGlyLeuHisAspLeuArgLysLysMetSerIleIleProGlnGluProValLeuPheThrGlyThrMetArgLysAsnLeuAspProPheAsnGluHisThrAspGluGluLeuTrpAsnAlaLeuGlnGluValGlnLeuLysGluThrIleGluAspLeuProGlyLysMetAspThrGluLeuAlaGluSerGlySerAsnPheSerValGlyGlnArgGlnLeuValCysLeuAlaArgAlaIleLeuArgLysAsnGlnIleLeuIleIleAspGluAlaThrAlaAsnValAspProArgThrAspGluLeuIleGlnLysLysIleArgGluLysPheAlaHisCysThrValLeuThrIleAlaHisArgLeuAsnThrIleIleAspSerAspLysIleMetValLeuAspSerGlyArgLeuLysGluTyrAspGluProTyrValLeuLeuGlnAsnLysGluSerLeuPheTyrLysMetValGlnGlnLeuGlyLysAlaGluAlaAlaAlaLeuThrGluThrAlaLysGlnValTyrPheLysArgAsnTyrProHisIleGlyHisThrAspHisMetValThrAsnThrSerAsnGlyGlnProSerThrLeuThrIlePheGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.2269G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.2269G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:p.Glu757Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:p.Glu757Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}