{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399795178",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.388G>T (p.Gly130Ter)"
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  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42337869C>A?assembly=hg19",
        "id": "chr17:g.42337869C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44260501C>A?assembly=hg38",
        "id": "chr17:g.44260501C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912749",
        "rs": 121912749
      }
    ]
  },
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      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44260501,
          "referenceAllele": "C",
          "start": 44260500
        }
      ],
      "hgvs": [
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        "CM000679.2:g.44260501C>A"
      ],
      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39693395,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
        "NC_000017.9:g.39693395C>A"
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
        "NG_007498.1:g.12634G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
          "allele": "T",
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          "start": 537
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      ],
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_000342.4:c.388G>T"
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        },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
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      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN011027",
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      "referenceSequence": "http://reg.genome.network/refseq/RS313305"
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    {
      "coordinates": [
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS333615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973657",
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
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      "geneSymbol": "SLC4A1",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000333.1:p.Gly130_Val911delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
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      "geneNCBI_id": 6521,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Gly65Ter",
        "hgvsWellDefined": "XP_005257650.1:p.Gly65_Val846delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
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      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Gly130Ter",
        "hgvsWellDefined": "XP_011523431.1:p.Gly130_Val881delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525130.1:c.388G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523432.1:p.Gly130Ter",
        "hgvsWellDefined": "XP_011523432.1:p.Gly130_Gly788delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValAlaProAspArgGlyLeuThrProHisTrpCysGlnAlaSerGlyAsnLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525131.1:c.388G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523433.1:p.Gly130Ter",
        "hgvsWellDefined": "XP_011523433.1:p.Gly130_Gly692delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrProSerTyrLeuGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.193G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Gly65Ter",
        "hgvsWellDefined": "XP_005257650.1:p.Gly65_Val846delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.388G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Gly130Ter",
        "hgvsWellDefined": "XP_011523431.1:p.Gly130_Val881delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973657",
      "coordinates": [
        {
          "allele": "T",
          "end": 538,
          "referenceAllele": "G",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.388G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Gly130Ter",
        "hgvsWellDefined": "NP_000333.1:p.Gly130_Val911delinsValAlaAsnGlnLeuLeuAspArgPheIlePheGluAspGlnIleArgProGlnAspArgGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.388G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.388G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Gly130Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Gly130Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}