{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361705546",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=633631[alleleid]",
        "alleleId": 633631,
        "preferredName": "NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/655153",
        "RCV": [
          "RCV000811272",
          "RCV003472411"
        ],
        "variationId": 655153
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149357912C>T?assembly=hg19",
        "id": "chr5:g.149357912C>T"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149978349C>T?assembly=hg38",
        "id": "chr5:g.149978349C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1429562386",
        "rs": 1429562386
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149357912-C-T?dataset=gnomad_r2_1",
        "id": "5-149357912-C-T",
        "variant": "5:149357912 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149978349-C-T?dataset=gnomad_r4",
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      }
    ]
  },
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      "chromosome": "5",
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        {
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      "referenceGenome": "GRCh38",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000690410.1:n.929C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS832689"
    },
    {
      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
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            "hgvs": "NM_000112.4:c.697C>T"
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        },
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          }
        }
      }
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    {
      "coordinates": [
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          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
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      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:p.Gln124Ter",
        "hgvsWellDefined": "ENSP00000426053.1:p.Gln124Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957490",
      "coordinates": [
        {
          "allele": "T",
          "end": 965,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
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        "LRG_684t1:c.697C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000103.2:p.Gln233_Asp739delinsValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Gln233Ter",
        "hgvsWellDefined": "XP_016864680.1:p.Gln233_Asp739delinsValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957490",
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "C",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Gln233Ter",
        "hgvsWellDefined": "NP_000103.2:p.Gln233_Asp739delinsValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.697C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.697C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Gln233Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Gln233Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}