{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16021024",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431351[alleleid]",
        "alleleId": 431351,
        "preferredName": "NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437488",
        "RCV": [
          "RCV000502743",
          "RCV000622677",
          "RCV001865630"
        ],
        "variationId": 437488
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99374759T>A?assembly=hg19",
        "id": "chr6:g.99374759T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98926883T>A?assembly=hg38",
        "id": "chr6:g.98926883T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1182326570",
        "rs": 1182326570
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-99374759-T-A?dataset=gnomad_r2_1",
        "id": "6-99374759-T-A",
        "variant": "6:99374759 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98926883-T-A?dataset=gnomad_r4",
        "id": "6-98926883-T-A",
        "variant": "6:98926883 T / A"
      }
    ]
  },
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      "chromosome": "6",
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        {
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        "CM000668.2:g.98926883T>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
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          "start": 99481479
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      ],
      "hgvs": [
        "NC_000006.10:g.99481480T>A"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
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          "allele": "T",
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        "NG_033903.1:g.26124A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
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  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.106A>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
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            "hgvs": "NM_001278716.2:c.106A>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000358247.1:p.Arg36Ter"
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          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Arg36Ter"
          }
        }
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    {
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      "geneNCBI_id": 26235,
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 534
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613678",
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        {
          "allele": "T",
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          "start": 614
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      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460571",
      "coordinates": [
        {
          "allele": "T",
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          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "hgvs": [
        "NM_012160.4:c.106A>T"
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      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Arg36Ter",
        "hgvsWellDefined": "NP_036292.2:p.Arg36_Gln621delinsAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS053084"
    },
    {
      "coordinates": [
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          "allele": "T",
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      ],
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      "hgvs": [
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        "hgvs": "XP_005266987.1:p.Arg36Ter",
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "A",
          "start": 575
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      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
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      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
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      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
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          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613678",
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      ],
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      "proteinEffect": {
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000369244.7:c.106A>T"
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          "RefSeq": {
            "hgvs": "NM_001278716.2:c.106A>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Arg36Ter"
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          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Arg36Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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          "allele": "T",
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          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "geneSymbol": "FBXL4",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460571",
      "coordinates": [
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          "allele": "T",
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          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.106A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Arg36Ter",
        "hgvsWellDefined": "NP_036292.2:p.Arg36_Gln621delinsAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}