{
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  "@id": "http://reg.genome.network/allele/CA364718552",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678782",
        "RCV": [
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        "@id": "http://myvariant.info/v1/variant/chr6:g.74354135G>A?assembly=hg19",
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr6:g.73644412G>A?assembly=hg38",
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2533519854",
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        {
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    {
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_012434.5:c.286C>T"
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        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_036566.1:p.Gln96Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 2487,
          "referenceAllele": "C",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.61-2488C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:n.61-2488C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909575",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Gln96Ter",
        "hgvsWellDefined": "NP_001369559.1:p.Gln96_Lys470delinsThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909803",
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Gln103Ter",
        "hgvsWellDefined": "NP_001369560.1:p.Gln103_His502delinsThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909996",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Gln96Ter",
        "hgvsWellDefined": "NP_001369561.1:p.Gln96_His466delinsThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910243",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Gln96Ter",
        "hgvsWellDefined": "NP_001369562.1:p.Gln96_Lys533delinsThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910490",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Gln96Ter",
        "hgvsWellDefined": "NP_001369563.1:p.Gln96_His442delinsThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910722",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.286C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Gln96Ter",
        "hgvsWellDefined": "NP_001369564.1:p.Gln96_His494delinsThrGlyLysLysTyrGlnTrpAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 2487,
          "referenceAllele": "C",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.61-2488C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:n.61-2488C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}