{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3505424",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=830533[alleleid]",
        "alleleId": 830533,
        "preferredName": "NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835924",
        "RCV": [
          "RCV001036925"
        ],
        "variationId": 835924
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149360499-C-G",
        "id": "5-149360499-C-G",
        "variant": "5:149360499 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149360499C>G?assembly=hg19",
        "id": "chr5:g.149360499C>G"
      }
    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr5:g.149980936C>G?assembly=hg38",
        "id": "chr5:g.149980936C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771098555",
        "rs": 771098555
      }
    ],
    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/5-149360499-C-G?dataset=gnomad_r2_1",
        "id": "5-149360499-C-G",
        "variant": "5:149360499 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149980936-C-G?dataset=gnomad_r3",
        "id": "5-149980936-C-G",
        "variant": "5:149980936 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149980936-C-G?dataset=gnomad_r4",
        "id": "5-149980936-C-G",
        "variant": "5:149980936 C / G"
      }
    ]
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      "chromosome": "5",
      "coordinates": [
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          "referenceAllele": "C",
          "start": 149980935
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      ],
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "5",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "5",
      "coordinates": [
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          "end": 149340692,
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          "start": 149340691
        }
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
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      ],
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        "LRG_684:g.22054C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
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      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
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      ],
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        "hgvsWellDefined": "ENSP00000286298.4:p.Ser448_Asp739delinsThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
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        "maneStatus": "MANE Select",
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          },
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          }
        },
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          }
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2585,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+2585C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139667998",
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      "geneSymbol": "SLC26A2",
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        "LRG_684t1:c.1343C>G"
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        "hgvsWellDefined": "NP_000103.2:p.Ser448_Asp739delinsThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016864680.1:p.Ser448_Asp739delinsThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139667998",
      "coordinates": [
        {
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          "end": 1590,
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      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
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        "hgvsWellDefined": "NP_000103.2:p.Ser448_Asp739delinsThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000286298.5:c.1343C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.1343C>G"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000286298.4:p.Ser448Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Ser448Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}