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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1636616",
  "communityStandardTitle": [
    "NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1950535[alleleid]",
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        "preferredName": "NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2426862",
        "RCV": [
          "RCV003122695",
          "RCV003162174"
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        "variationId": 2426862
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    ],
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      {
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    ],
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      }
    ],
    "gnomAD_4": [
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      "referenceGenome": "NCBI36",
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        "maneStatus": "MANE Select",
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          "start": 1200
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      "referenceSequence": "http://reg.genome.network/refseq/RS767979"
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      "referenceSequence": "http://reg.genome.network/refseq/RS250618"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280311"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282000"
    },
    {
      "coordinates": [
        {
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          "start": 1551
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS325308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580453368",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037306"
    },
    {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069455"
    },
    {
      "coordinates": [
        {
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        "hgvsWellDefined": "XP_006712137.1:p.Arg183_Ser339delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrArgIleAsnLeuAlaGlySerMetAsnLeuProGluMetThrIleArgMetArgSerGlyIleSerLeuLysGlnThrGlyAlaLeuLeuLeuLeuTyrGlnSerIleIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.1:c.547C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011531326.1:p.Arg183_Arg606delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetValProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
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      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
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        "XM_011533026.1:c.547C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011531328.1:p.Arg183_Arg561delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.1:c.34C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:p.Arg12Ter",
        "hgvsWellDefined": "XP_011531329.1:p.Arg12_Arg480delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2,
          "referenceAllele": "C",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533028.1:c.-151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531330.1:n.-151C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.1:c.*700G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*700G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.1:c.*700G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*700G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_005264537.1:p.Arg183_Asn558delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgGlnLeuLysCysPheCysAspAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.3:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Arg183Ter",
        "hgvsWellDefined": "XP_006712136.1:p.Arg183_Tyr593delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysAlaProGluGlyGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712074.3:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712137.1:p.Arg183Ter",
        "hgvsWellDefined": "XP_006712137.1:p.Arg183_Ser339delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrArgIleAsnLeuAlaGlySerMetAsnLeuProGluMetThrIleArgMetArgSerGlyIleSerLeuLysGlnThrGlyAlaLeuLeuLeuLeuTyrGlnSerIleIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
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      "hgvs": [
        "XM_011533024.2:c.547C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011531326.1:p.Arg183_Arg606delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetValProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.3:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:p.Arg102Ter",
        "hgvsWellDefined": "XP_011531327.1:p.Arg102_Arg570delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.2:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Arg183Ter",
        "hgvsWellDefined": "XP_011531328.1:p.Arg183_Arg561delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.3:c.34C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:p.Arg12Ter",
        "hgvsWellDefined": "XP_011531329.1:p.Arg12_Arg480delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2,
          "referenceAllele": "C",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533028.2:c.-151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531330.1:n.-151C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580453368",
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Arg183Ter",
        "hgvsWellDefined": "NP_071881.1:p.Arg183_Arg651delinsLeuIleGlyAsnTyrSerLeuGlyGlyIleSerThrGlyGluArgArgArgValSerIleAlaAlaGlnLeuLeuGlnAspProLysValMetLeuPheAspGluProThrThrGlyLeuAspCysMetThrAlaAsnGlnIleValValLeuLeuValGluLeuAlaArgArgAsnArgIleValValLeuThrIleHisGlnProArgSerGluLeuPheGlnLeuPheAspLysIleAlaIleLeuSerPheGlyGluLeuIlePheCysGlyThrProAlaGluMetLeuAspPhePheAsnAspCysGlyTyrProCysProGluHisSerAsnProPheAspPheTyrMetAspLeuThrSerValAspThrGlnSerLysGluArgGluIleGluThrSerLysArgValGlnMetIleGluSerAlaTyrLysLysSerAlaIleCysHisLysThrLeuLysAsnIleGluArgMetLysHisLeuLysThrLeuProMetValProPheLysThrLysAspSerProGlyValPheSerLysLeuGlyValLeuLeuArgArgValThrArgAsnLeuValArgAsnLysLeuAlaValIleThrArgLeuLeuGlnAsnLeuIleMetGlyLeuPheLeuLeuPhePheValLeuArgValArgSerAsnValLeuLysGlyAlaIleGlnAspArgValGlyLeuLeuTyrGlnPheValGlyAlaThrProTyrThrGlyMetLeuAsnAlaValAsnLeuPheProValLeuArgAlaValSerAspGlnGluSerGlnAspGlyLeuTyrGlnLysTrpGlnMetMetLeuAlaTyrAlaLeuHisValLeuProPheSerValValAlaThrMetIlePheSerSerValCysTyrTrpThrLeuGlyLeuHisProGluValAlaArgPheGlyTyrPheSerAlaAlaLeuLeuAlaProHisLeuIleGlyGluPheLeuThrLeuValLeuLeuGlyIleValGlnAsnProAsnIleValAsnSerValValAlaLeuLeuSerIleAlaGlyValLeuValGlySerGlyPheLeuArgAsnIleGlnGluMetProIleProPheLysIleIleSerTyrPheThrPheGlnLysTyrCysSerGluIleLeuValValAsnGluPheTyrGlyLeuAsnPheThrCysGlySerSerAsnValSerValThrThrAsnProMetCysAlaPheThrGlnGlyIleGlnPheIleGluLysThrCysProGlyAlaThrSerArgPheThrMetAsnPheLeuIleLeuTyrSerPheIleProAlaLeuValIleLeuGlyIleValValPheLysIleArgAspHisLeuIleSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.547C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.547C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Arg183Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Arg183Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.2:c.*700G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*700G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.2:c.*700G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*700G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}