{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16021025",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431334[alleleid]",
        "alleleId": 431334,
        "preferredName": "NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437489",
        "RCV": [
          "RCV000499646"
        ],
        "variationId": 437489
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99374646A>T?assembly=hg19",
        "id": "chr6:g.99374646A>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98926770A>T?assembly=hg38",
        "id": "chr6:g.98926770A>T"
      }
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/747536886",
        "rs": 747536886
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    ]
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      "chromosome": "6",
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        {
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        "CM000668.2:g.98926770A>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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          "end": 99374646,
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      ],
      "hgvs": [
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        "CM000668.1:g.99374646A>T"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NC_000006.10:g.99481367A>T"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "NG_033903.1:g.26237T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
          "allele": "A",
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          "start": 667
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_001278716.2:c.219T>A"
          }
        },
        "protein": {
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          }
        }
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000229971.1:p.Tyr73_Gln621delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
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      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "T",
          "start": 647
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      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000358247.1:p.Tyr73_Gln621delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613703",
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "T",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265645.1:p.Tyr73_Gln621delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460586",
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "T",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "hgvs": [
        "NM_012160.4:c.219T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_036292.2:p.Tyr73_Gln621delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.610T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS053084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "T",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.219T>A"
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      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Tyr73Ter",
        "hgvsWellDefined": "XP_005266987.1:p.Tyr73_Gln597delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      "referenceSequence": "http://reg.genome.network/refseq/RS102751"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
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      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866216.1:p.Tyr73_Gln597delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "T",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "geneSymbol": "FBXL4",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613703",
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.219T>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265645.1:p.Tyr73_Gln621delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.219T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.219T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Tyr73Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Tyr73Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "T",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.550T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.2:n.550T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460586",
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "T",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.219T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_036292.2:p.Tyr73_Gln621delinsThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}