{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1240588",
  "communityStandardTitle": [
    "NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1313224[alleleid]",
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      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1322927",
        "RCV": [
          "RCV001783302",
          "RCV003660902"
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        "variationId": 1322927
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    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/1-171077357-G-T",
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    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.171077357G>T?assembly=hg19",
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    ],
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        "@id": "http://myvariant.info/v1/variant/chr1:g.171108216G>T?assembly=hg38",
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    ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS031869"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS057076"
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      "referenceSequence": "http://reg.genome.network/refseq/RS076613"
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS076614"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033952",
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      "proteinEffect": {
        "hgvs": "NP_001306103.1:p.Glu145Ter",
        "hgvsWellDefined": "NP_001306103.1:p.Glu145_Thr469delinsGlnValMetIleSerSerArgSerGlySerTrpValMetSerArgValTrpAspAsnGlyTyrProTrpAspMetLeuLeuValThrArgPheGlyThrPheLeuLysAsnAsnLeuProThrAlaIleSerAspTrpLeuTyrValLysGlnMetAsnAlaArgPheLysHisGluAsnTyrGlyLeuMetProLeuAsnGlyValLeuArgLysGluProValPheAsnAspGluLeuProAlaSerIleLeuCysGlyIleValSerValLysProAsnValLysGluPheThrGluThrSerAlaIlePheGluAspGlyThrIlePheGluGlyIleAspCysValIlePheAlaThrGlyTyrSerPheAlaTyrProPheLeuAspGluSerIleIleLysSerArgAsnAsnGluIleIleLeuPheLysGlyValPheProProLeuLeuGluLysSerThrIleAlaValIleGlyPheValGlnSerLeuGlyAlaAlaIleProThrValAspLeuGlnSerArgTrpAlaAlaGlnValIleLysGlyThrCysThrLeuProSerMetGluAspMetMetAsnAspIleAsnGluLysMetGluLysLysArgLysTrpPheGlyLysSerGluThrIleGlnThrAspTyrIleValTyrMetAspGluLeuSerSerPheIleGlyAlaLysProAsnIleProTrpLeuPheLeuThrAspProLysLeuAlaMetGluValTyrPheGlyProCysSerProTyrGlnPheArgLeuValGlyProGlyGlnTrpProGlyAlaArgAsnAlaIleLeuThrGlnTrpAspArgSerLeuLysProMetGlnThrArgValValGlyArgLeuGlnLysProCysPhePhePheHisTrpLeuLysLeuPheAlaIleProIleLeuLeuIleAlaValPheLeuValLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509345.3:c.562G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507647.1:p.Glu188Ter",
        "hgvsWellDefined": "XP_011507647.1:p.Glu188_Thr512delinsGlnValMetIleSerSerArgSerGlySerTrpValMetSerArgValTrpAspAsnGlyTyrProTrpAspMetLeuLeuValThrArgPheGlyThrPheLeuLysAsnAsnLeuProThrAlaIleSerAspTrpLeuTyrValLysGlnMetAsnAlaArgPheLysHisGluAsnTyrGlyLeuMetProLeuAsnGlyValLeuArgLysGluProValPheAsnAspGluLeuProAlaSerIleLeuCysGlyIleValSerValLysProAsnValLysGluPheThrGluThrSerAlaIlePheGluAspGlyThrIlePheGluGlyIleAspCysValIlePheAlaThrGlyTyrSerPheAlaTyrProPheLeuAspGluSerIleIleLysSerArgAsnAsnGluIleIleLeuPheLysGlyValPheProProLeuLeuGluLysSerThrIleAlaValIleGlyPheValGlnSerLeuGlyAlaAlaIleProThrValAspLeuGlnSerArgTrpAlaAlaGlnValIleLysGlyThrCysThrLeuProSerMetGluAspMetMetAsnAspIleAsnGluLysMetGluLysLysArgLysTrpPheGlyLysSerGluThrIleGlnThrAspTyrIleValTyrMetAspGluLeuSerSerPheIleGlyAlaLysProAsnIleProTrpLeuPheLeuThrAspProLysLeuAlaMetGluValTyrPheGlyProCysSerProTyrGlnPheArgLeuValGlyProGlyGlnTrpProGlyAlaArgAsnAlaIleLeuThrGlnTrpAspArgSerLeuLysProMetGlnThrArgValValGlyArgLeuGlnLysProCysPhePhePheHisTrpLeuLysLeuPheAlaIleProIleLeuLeuIleAlaValPheLeuValLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_024454365.1:c.75G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310133.1:p.Gln25His",
        "hgvsWellDefined": "XP_024310133.1:p.Gln25His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825253269",
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001002294.3:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002294.1:p.Glu208Ter",
        "hgvsWellDefined": "NP_001002294.1:p.Glu208_Thr532delinsGlnValMetIleSerSerArgSerGlySerTrpValMetSerArgValTrpAspAsnGlyTyrProTrpAspMetLeuLeuValThrArgPheGlyThrPheLeuLysAsnAsnLeuProThrAlaIleSerAspTrpLeuTyrValLysGlnMetAsnAlaArgPheLysHisGluAsnTyrGlyLeuMetProLeuAsnGlyValLeuArgLysGluProValPheAsnAspGluLeuProAlaSerIleLeuCysGlyIleValSerValLysProAsnValLysGluPheThrGluThrSerAlaIlePheGluAspGlyThrIlePheGluGlyIleAspCysValIlePheAlaThrGlyTyrSerPheAlaTyrProPheLeuAspGluSerIleIleLysSerArgAsnAsnGluIleIleLeuPheLysGlyValPheProProLeuLeuGluLysSerThrIleAlaValIleGlyPheValGlnSerLeuGlyAlaAlaIleProThrValAspLeuGlnSerArgTrpAlaAlaGlnValIleLysGlyThrCysThrLeuProSerMetGluAspMetMetAsnAspIleAsnGluLysMetGluLysLysArgLysTrpPheGlyLysSerGluThrIleGlnThrAspTyrIleValTyrMetAspGluLeuSerSerPheIleGlyAlaLysProAsnIleProTrpLeuPheLeuThrAspProLysLeuAlaMetGluValTyrPheGlyProCysSerProTyrGlnPheArgLeuValGlyProGlyGlnTrpProGlyAlaArgAsnAlaIleLeuThrGlnTrpAspArgSerLeuLysProMetGlnThrArgValValGlyArgLeuGlnLysProCysPhePhePheHisTrpLeuLysLeuPheAlaIleProIleLeuLeuIleAlaValPheLeuValLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367755.9:c.622G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001002294.3:c.622G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356729.4:p.Glu208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001002294.1:p.Glu208Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033828",
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319173.2:c.562G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306102.1:p.Glu188Ter",
        "hgvsWellDefined": "NP_001306102.1:p.Glu188_Thr512delinsGlnValMetIleSerSerArgSerGlySerTrpValMetSerArgValTrpAspAsnGlyTyrProTrpAspMetLeuLeuValThrArgPheGlyThrPheLeuLysAsnAsnLeuProThrAlaIleSerAspTrpLeuTyrValLysGlnMetAsnAlaArgPheLysHisGluAsnTyrGlyLeuMetProLeuAsnGlyValLeuArgLysGluProValPheAsnAspGluLeuProAlaSerIleLeuCysGlyIleValSerValLysProAsnValLysGluPheThrGluThrSerAlaIlePheGluAspGlyThrIlePheGluGlyIleAspCysValIlePheAlaThrGlyTyrSerPheAlaTyrProPheLeuAspGluSerIleIleLysSerArgAsnAsnGluIleIleLeuPheLysGlyValPheProProLeuLeuGluLysSerThrIleAlaValIleGlyPheValGlnSerLeuGlyAlaAlaIleProThrValAspLeuGlnSerArgTrpAlaAlaGlnValIleLysGlyThrCysThrLeuProSerMetGluAspMetMetAsnAspIleAsnGluLysMetGluLysLysArgLysTrpPheGlyLysSerGluThrIleGlnThrAspTyrIleValTyrMetAspGluLeuSerSerPheIleGlyAlaLysProAsnIleProTrpLeuPheLeuThrAspProLysLeuAlaMetGluValTyrPheGlyProCysSerProTyrGlnPheArgLeuValGlyProGlyGlnTrpProGlyAlaArgAsnAlaIleLeuThrGlnTrpAspArgSerLeuLysProMetGlnThrArgValValGlyArgLeuGlnLysProCysPhePhePheHisTrpLeuLysLeuPheAlaIleProIleLeuLeuIleAlaValPheLeuValLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033952",
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319174.2:c.433G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306103.1:p.Glu145Ter",
        "hgvsWellDefined": "NP_001306103.1:p.Glu145_Thr469delinsGlnValMetIleSerSerArgSerGlySerTrpValMetSerArgValTrpAspAsnGlyTyrProTrpAspMetLeuLeuValThrArgPheGlyThrPheLeuLysAsnAsnLeuProThrAlaIleSerAspTrpLeuTyrValLysGlnMetAsnAlaArgPheLysHisGluAsnTyrGlyLeuMetProLeuAsnGlyValLeuArgLysGluProValPheAsnAspGluLeuProAlaSerIleLeuCysGlyIleValSerValLysProAsnValLysGluPheThrGluThrSerAlaIlePheGluAspGlyThrIlePheGluGlyIleAspCysValIlePheAlaThrGlyTyrSerPheAlaTyrProPheLeuAspGluSerIleIleLysSerArgAsnAsnGluIleIleLeuPheLysGlyValPheProProLeuLeuGluLysSerThrIleAlaValIleGlyPheValGlnSerLeuGlyAlaAlaIleProThrValAspLeuGlnSerArgTrpAlaAlaGlnValIleLysGlyThrCysThrLeuProSerMetGluAspMetMetAsnAspIleAsnGluLysMetGluLysLysArgLysTrpPheGlyLysSerGluThrIleGlnThrAspTyrIleValTyrMetAspGluLeuSerSerPheIleGlyAlaLysProAsnIleProTrpLeuPheLeuThrAspProLysLeuAlaMetGluValTyrPheGlyProCysSerProTyrGlnPheArgLeuValGlyProGlyGlnTrpProGlyAlaArgAsnAlaIleLeuThrGlnTrpAspArgSerLeuLysProMetGlnThrArgValValGlyArgLeuGlnLysProCysPhePhePheHisTrpLeuLysLeuPheAlaIleProIleLeuLeuIleAlaValPheLeuValLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573089109",
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_006894.6:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008825.4:p.Glu208Ter",
        "hgvsWellDefined": "NP_008825.4:p.Glu208_Thr532delinsGlnValMetIleSerSerArgSerGlySerTrpValMetSerArgValTrpAspAsnGlyTyrProTrpAspMetLeuLeuValThrArgPheGlyThrPheLeuLysAsnAsnLeuProThrAlaIleSerAspTrpLeuTyrValLysGlnMetAsnAlaArgPheLysHisGluAsnTyrGlyLeuMetProLeuAsnGlyValLeuArgLysGluProValPheAsnAspGluLeuProAlaSerIleLeuCysGlyIleValSerValLysProAsnValLysGluPheThrGluThrSerAlaIlePheGluAspGlyThrIlePheGluGlyIleAspCysValIlePheAlaThrGlyTyrSerPheAlaTyrProPheLeuAspGluSerIleIleLysSerArgAsnAsnGluIleIleLeuPheLysGlyValPheProProLeuLeuGluLysSerThrIleAlaValIleGlyPheValGlnSerLeuGlyAlaAlaIleProThrValAspLeuGlnSerArgTrpAlaAlaGlnValIleLysGlyThrCysThrLeuProSerMetGluAspMetMetAsnAspIleAsnGluLysMetGluLysLysArgLysTrpPheGlyLysSerGluThrIleGlnThrAspTyrIleValTyrMetAspGluLeuSerSerPheIleGlyAlaLysProAsnIleProTrpLeuPheLeuThrAspProLysLeuAlaMetGluValTyrPheGlyProCysSerProTyrGlnPheArgLeuValGlyProGlyGlnTrpProGlyAlaArgAsnAlaIleLeuThrGlnTrpAspArgSerLeuLysProMetGlnThrArgValValGlyArgLeuGlnLysProCysPhePhePheHisTrpLeuLysLeuPheAlaIleProIleLeuLeuIleAlaValPheLeuValLeuThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696847"
    }
  ],
  "type": "nucleotide"
}