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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361707460",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)"
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        "preferredName": "NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1071456",
        "RCV": [
          "RCV001383933",
          "RCV003473949"
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        "variationId": 1071456
      }
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        "@id": "http://myvariant.info/v1/variant/chr5:g.149360402C>T?assembly=hg19",
        "id": "chr5:g.149360402C>T"
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      }
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2113698485",
        "rs": 2113698485
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    "gnomAD_4": [
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        "id": "5-149980839-C-T",
        "variant": "5:149980839 C / T"
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      "referenceGenome": "GRCh38",
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    },
    {
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      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2488,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+2488C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228557",
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          "end": 1514,
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        }
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      "gene": "http://reg.genome.network/gene/GN010994",
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      "geneSymbol": "SLC26A2",
      "hgvs": [
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        "LRG_684t1:c.1246C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "geneSymbol": "SLC26A2",
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        "hgvsWellDefined": "XP_016864680.1:p.Gln416_Asp739delinsGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228557",
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Gln416Ter",
        "hgvsWellDefined": "NP_000103.2:p.Gln416_Asp739delinsGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.1246C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.1246C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Gln416Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Gln416Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}