{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127385",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.448C>T (p.Arg150Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32801[alleleid]",
        "alleleId": 32801,
        "preferredName": "NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17762",
        "RCV": [
          "RCV000019339",
          "RCV002514115"
        ],
        "variationId": 17762
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42337809G>A?assembly=hg19",
        "id": "chr17:g.42337809G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44260441G>A?assembly=hg38",
        "id": "chr17:g.44260441G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/56361140",
        "rs": 56361140
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44260441-G-A?dataset=gnomad_r4",
        "id": "17-44260441-G-A",
        "variant": "17:44260441 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44260441,
          "referenceAllele": "G",
          "start": 44260440
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44260441G>A",
        "CM000679.2:g.44260441G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42337809,
          "referenceAllele": "G",
          "start": 42337808
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42337809G>A",
        "CM000679.1:g.42337809G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39693335,
          "referenceAllele": "G",
          "start": 39693334
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39693335G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12694,
          "referenceAllele": "C",
          "start": 12693
        }
      ],
      "hgvs": [
        "NG_007498.1:g.12694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.12:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Arg150Ter",
        "hgvsWellDefined": "ENSP00000262418.6:p.Arg150_Val911delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS742338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.448C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.448C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Arg150Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Arg150Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.10:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Arg150Ter",
        "hgvsWellDefined": "ENSP00000262418.6:p.Arg150_Val911delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000382190.3:p.Arg150_Val545delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
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          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS313305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
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      "geneSymbol": "SLC4A1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS333615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127386",
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Arg150Ter",
        "hgvsWellDefined": "NP_000333.1:p.Arg150_Val911delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Arg85Ter",
        "hgvsWellDefined": "XP_005257650.1:p.Arg85_Val846delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.1:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Arg150Ter",
        "hgvsWellDefined": "XP_011523431.1:p.Arg150_Val881delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525130.1:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523432.1:p.Arg150Ter",
        "hgvsWellDefined": "XP_011523432.1:p.Arg150_Gly788delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValAlaProAspArgGlyLeuThrProHisTrpCysGlnAlaSerGlyAsnLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525131.1:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523433.1:p.Arg150Ter",
        "hgvsWellDefined": "XP_011523433.1:p.Arg150_Gly692delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrProSerTyrLeuGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Arg85Ter",
        "hgvsWellDefined": "XP_005257650.1:p.Arg85_Val846delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Arg150Ter",
        "hgvsWellDefined": "XP_011523431.1:p.Arg150_Val881delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127386",
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Arg150Ter",
        "hgvsWellDefined": "NP_000333.1:p.Arg150_Val911delinsGluGluLeuLeuArgAlaLeuLeuLeuLysHisSerHisAlaGlyGluLeuGluAlaLeuGlyGlyValLysProAlaValLeuThrArgSerGlyAspProSerGlnProLeuLeuProGlnHisSerSerLeuGluThrGlnLeuPheCysGluGlnGlyAspGlyGlyThrGluGlyHisSerProSerGlyIleLeuGluLysIleProProAspSerGluAlaThrLeuValLeuValGlyArgAlaAspPheLeuGluGlnProValLeuGlyPheValArgLeuGlnGluAlaAlaGluLeuGluAlaValGluLeuProValProIleArgPheLeuPheValLeuLeuGlyProGluAlaProHisIleAspTyrThrGlnLeuGlyArgAlaAlaAlaThrLeuMetSerGluArgValPheArgIleAspAlaTyrMetAlaGlnSerArgGlyGluLeuLeuHisSerLeuGluGlyPheLeuAspCysSerLeuValLeuProProThrAspAlaProSerGluGlnAlaLeuLeuSerLeuValProValGlnArgGluLeuLeuArgArgArgTyrGlnSerSerProAlaLysProAspSerSerPheTyrLysGlyLeuAspLeuAsnGlyGlyProAspAspProLeuGlnGlnThrGlyGlnLeuPheGlyGlyLeuValArgAspIleArgArgArgTyrProTyrTyrLeuSerAspIleThrAspAlaPheSerProGlnValLeuAlaAlaValIlePheIleTyrPheAlaAlaLeuSerProAlaIleThrPheGlyGlyLeuLeuGlyGluLysThrArgAsnGlnMetGlyValSerGluLeuLeuIleSerThrAlaValGlnGlyIleLeuPheAlaLeuLeuGlyAlaGlnProLeuLeuValValGlyPheSerGlyProLeuLeuValPheGluGluAlaPhePheSerPheCysGluThrAsnGlyLeuGluTyrIleValGlyArgValTrpIleGlyPheTrpLeuIleLeuLeuValValLeuValValAlaPheGluGlySerPheLeuValArgPheIleSerArgTyrThrGlnGluIlePheSerPheLeuIleSerLeuIlePheIleTyrGluThrPheSerLysLeuIleLysIlePheGlnAspHisProLeuGlnLysThrTyrAsnTyrAsnValLeuMetValProLysProGlnGlyProLeuProAsnThrAlaLeuLeuSerLeuValLeuMetAlaGlyThrPhePhePheAlaMetMetLeuArgLysPheLysAsnSerSerTyrPheProGlyLysLeuArgArgValIleGlyAspPheGlyValProIleSerIleLeuIleMetValLeuValAspPhePheIleGlnAspThrTyrThrGlnLysLeuSerValProAspGlyPheLysValSerAsnSerSerAlaArgGlyTrpValIleHisProLeuGlyLeuArgSerGluPheProIleTrpMetMetPheAlaSerAlaLeuProAlaLeuLeuValPheIleLeuIlePheLeuGluSerGlnIleThrThrLeuIleValSerLysProGluArgLysMetValLysGlySerGlyPheHisLeuAspLeuLeuLeuValValGlyMetGlyGlyValAlaAlaLeuPheGlyMetProTrpLeuSerAlaThrThrValArgSerValThrHisAlaAsnAlaLeuThrValMetGlyLysAlaSerThrProGlyAlaAlaAlaGlnIleGlnGluValLysGluGlnArgIleSerGlyLeuLeuValAlaValLeuValGlyLeuSerIleLeuMetGluProIleLeuSerArgIleProLeuAlaValLeuPheGlyIlePheLeuTyrMetGlyValThrSerLeuSerGlyIleGlnLeuPheAspArgIleLeuLeuLeuPheLysProProLysTyrHisProAspValProTyrValLysArgValLysThrTrpArgMetHisLeuPheThrGlyIleGlnIleIleCysLeuAlaValLeuTrpValValLysSerThrProAlaSerLeuAlaLeuProPheValLeuIleLeuThrValProLeuArgArgValLeuLeuProLeuIlePheArgAsnValGluLeuGlnCysLeuAspAlaAspAspAlaLysAlaThrPheAspGluGluGluGlyArgAspGluTyrAspGluValAlaMetProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.448C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.448C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Arg150Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Arg150Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}