{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118964",
  "communityStandardTitle": [
    "NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22704[alleleid]",
        "alleleId": 22704,
        "preferredName": "NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7665",
        "RCV": [
          "RCV000008104",
          "RCV003555966"
        ],
        "variationId": 7665
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.17988649C>A?assembly=hg19",
        "id": "chr19:g.17988649C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.17877840C>A?assembly=hg38",
        "id": "chr19:g.17877840C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909175",
        "rs": 121909175
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17877840-C-A?dataset=gnomad_r3",
        "id": "19-17877840-C-A",
        "variant": "19:17877840 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17877840-C-A?dataset=gnomad_r4",
        "id": "19-17877840-C-A",
        "variant": "19:17877840 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 17877840,
          "referenceAllele": "C",
          "start": 17877839
        }
      ],
      "hgvs": [
        "NC_000019.10:g.17877840C>A",
        "CM000681.2:g.17877840C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 17988649,
          "referenceAllele": "C",
          "start": 17988648
        }
      ],
      "hgvs": [
        "NC_000019.9:g.17988649C>A",
        "CM000681.1:g.17988649C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 17849649,
          "referenceAllele": "C",
          "start": 17849648
        }
      ],
      "hgvs": [
        "NC_000019.8:g.17849649C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10868,
          "referenceAllele": "C",
          "start": 10867
        }
      ],
      "hgvs": [
        "NG_012930.1:g.10868C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
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          "start": 1190
        }
      ],
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      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "ENST00000222248.4:c.816C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000222248.2:p.Cys272_Leu643delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740555",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000222248.4:c.816C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000453.3:c.816C>A"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000222248.2:p.Cys272Ter"
          },
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            "hgvs": "NP_000444.1:p.Cys272Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
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          "start": 1162
        }
      ],
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      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000222248.2:p.Cys272_Leu643delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118965",
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "NM_000453.2:c.816C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000444.1:p.Cys272_Leu643delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
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      "geneNCBI_id": 6528,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011526494.1:p.Cys272_Leu654delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnLeuSerGlyArgLeuThrProSerSerProGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011526495.1:p.Cys183_Leu565delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnLeuSerGlyArgLeuThrProSerSerProGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011526496.1:p.Cys150Ter",
        "hgvsWellDefined": "XP_011526496.1:p.Cys150_Leu532delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnLeuSerGlyArgLeuThrProSerSerProGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011526494.1:p.Cys272Ter",
        "hgvsWellDefined": "XP_011526494.1:p.Cys272_Leu654delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnLeuSerGlyArgLeuThrProSerSerProGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011526495.1:p.Cys183Ter",
        "hgvsWellDefined": "XP_011526495.1:p.Cys183_Leu565delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnLeuSerGlyArgLeuThrProSerSerProGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
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      "geneSymbol": "SLC5A5",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011526496.1:p.Cys150Ter",
        "hgvsWellDefined": "XP_011526496.1:p.Cys150_Leu532delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnLeuSerGlyArgLeuThrProSerSerProGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_017027158.1:c.549C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882647.1:p.Cys183Ter",
        "hgvsWellDefined": "XP_016882647.1:p.Cys183_Leu554delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118965",
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "NM_000453.3:c.816C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000444.1:p.Cys272Ter",
        "hgvsWellDefined": "NP_000444.1:p.Cys272_Leu643delinsArgThrGluLysGlnAlaLysLeuAlaLeuLeuIleAsnGlnValGlyLeuPheLeuIleValSerSerAlaAlaCysCysGlyIleValMetPheValPheTyrThrAspCysAspProLeuLeuLeuGlyArgIleSerAlaProAspGlnTyrMetProLeuLeuValLeuAspIlePheGluAspLeuProGlyValProGlyLeuPheLeuAlaCysAlaTyrSerGlyThrLeuSerThrAlaSerThrSerIleAsnAlaMetAlaAlaValThrValGluAspLeuIleLysProArgLeuArgSerLeuAlaProArgLysLeuValIleIleSerLysGlyLeuSerLeuIleTyrGlySerAlaCysLeuThrValAlaAlaLeuSerSerLeuLeuGlyGlyGlyValLeuGlnGlySerPheThrValMetGlyValIleSerGlyProLeuLeuGlyAlaPheIleLeuGlyMetPheLeuProAlaCysAsnThrProGlyValLeuAlaGlyLeuGlyAlaGlyLeuAlaLeuSerLeuTrpValAlaLeuGlyAlaThrLeuTyrProProSerGluGlnThrMetArgValLeuProSerSerAlaAlaArgCysValAlaLeuSerValAsnAlaSerGlyLeuLeuAspProAlaLeuLeuProAlaAsnAspSerSerArgAlaProSerSerGlyMetAspAlaSerArgProAlaLeuAlaAspSerPheTyrAlaIleSerTyrLeuTyrTyrGlyAlaLeuGlyThrLeuThrThrValLeuCysGlyAlaLeuIleSerCysLeuThrGlyProThrLysArgSerThrLeuAlaProGlyLeuLeuTrpTrpAspLeuAlaArgGlnThrAlaSerValAlaProLysGluGluValAlaIleLeuAspAspAsnLeuValLysGlyProGluGluLeuProThrGlyAsnLysLysProProGlyPheLeuProThrAsnGluAspArgLeuPhePheLeuGlyGlnLysGluLeuGluGlyAlaGlySerTrpThrProCysValGlyHisAspGlyGlyArgAspGlnGlnGluThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662450",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222248.4:c.816C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000453.3:c.816C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222248.2:p.Cys272Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000444.1:p.Cys272Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}