{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6895890",
  "communityStandardTitle": [
    "NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2417646[alleleid]",
        "alleleId": 2417646,
        "preferredName": "NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2443910",
        "RCV": [
          "RCV003152518"
        ],
        "variationId": 2443910
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-133327370-G-A",
        "id": "12-133327370-G-A",
        "variant": "12:133327370 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.133327370G>A?assembly=hg19",
        "id": "chr12:g.133327370G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.132750784G>A?assembly=hg38",
        "id": "chr12:g.132750784G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753596204",
        "rs": 753596204
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-133327370-G-A?dataset=gnomad_r2_1",
        "id": "12-133327370-G-A",
        "variant": "12:133327370 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-132750784-G-A?dataset=gnomad_r4",
        "id": "12-132750784-G-A",
        "variant": "12:132750784 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 132750784,
          "referenceAllele": "G",
          "start": 132750783
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      ],
      "hgvs": [
        "NC_000012.12:g.132750784G>A",
        "CM000674.2:g.132750784G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 133327370,
          "referenceAllele": "G",
          "start": 133327369
        }
      ],
      "hgvs": [
        "NC_000012.11:g.133327370G>A",
        "CM000674.1:g.133327370G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 131837442
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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        "NG_034022.1:g.16105C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005684"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000357997.10:c.706C>T"
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          "RefSeq": {
            "hgvs": "NM_015114.3:c.706C>T"
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            "hgvs": "ENSP00000350686.5:p.Arg236Ter"
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          "RefSeq": {
            "hgvs": "NP_055929.1:p.Arg236Ter"
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        }
      }
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    {
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 795
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      "geneSymbol": "ANKLE2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000350686.5:p.Arg236_Leu938delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7205,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS361947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN029101",
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      "geneSymbol": "ANKLE2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS365199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580393967",
      "coordinates": [
        {
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        }
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      "gene": "http://reg.genome.network/gene/GN029101",
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      "geneSymbol": "ANKLE2",
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        "hgvsWellDefined": "NP_055929.1:p.Arg236_Leu938delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
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          "start": 613
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      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005266216.1:p.Arg174_Leu876delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS064932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005266217.1:p.Arg174_Leu876delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_005266161.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266218.1:p.Arg236Ter",
        "hgvsWellDefined": "XP_005266218.1:p.Arg236_Asp572delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgLysAlaCysLysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_006719735.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719798.1:p.Arg236Ter",
        "hgvsWellDefined": "XP_006719798.1:p.Arg236_Arg680delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGluArgSerHisGlnAsnSerIleArgMetPheTrpProLeuLeuAsnValGlnThrSerThrProIleSerSerArgProCysThrAspGlyArgValLeuSerCysAlaThrHisProArgThrAspArgValGlyProValProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_011534787.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533089.1:p.Arg236Ter",
        "hgvsWellDefined": "XP_011533089.1:p.Arg236_Ser648delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerValGluMetArgPheHisArgIleAspGlnAlaGlyLeuGluLeuLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_011534788.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533090.1:p.Arg236Ter",
        "hgvsWellDefined": "XP_011533090.1:p.Arg236_Ser648delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerValGluMetArgPheHisArgIleAspGlnAlaGlyLeuGluLeuLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_005266159.3:c.520C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266216.1:p.Arg174Ter",
        "hgvsWellDefined": "XP_005266216.1:p.Arg174_Leu876delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_005266160.2:c.520C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266217.1:p.Arg174Ter",
        "hgvsWellDefined": "XP_005266217.1:p.Arg174_Leu876delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_011534787.3:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533089.1:p.Arg236Ter",
        "hgvsWellDefined": "XP_011533089.1:p.Arg236_Ser648delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerValGluMetArgPheHisArgIleAspGlnAlaGlyLeuGluLeuLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XM_024448899.1:c.-689C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304667.1:n.-689C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "XR_001748638.1:n.707C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580393967",
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029101",
      "geneNCBI_id": 23141,
      "geneSymbol": "ANKLE2",
      "hgvs": [
        "NM_015114.3:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055929.1:p.Arg236Ter",
        "hgvsWellDefined": "NP_055929.1:p.Arg236_Leu938delinsPheLysAlaPheSerThrArgGluAspAlaGluLysPheAlaArgGlyIleCysAspTyrPheProSerProSerLysThrSerLeuProLeuSerProValLysThrAlaProLeuPheSerAsnAspArgLeuLysAspGlyLeuCysLeuSerGluSerGluThrValAsnLysGluArgAlaAsnSerTyrLysAsnProArgThrGlnAspLeuThrAlaLysLeuArgLysAlaValGluLysGlyGluGluAspThrPheSerAspLeuIleTrpSerAsnProArgTyrLeuIleGlySerGlyAspAsnProThrIleValGlnGluGlyCysArgTyrAsnValMetHisValAlaAlaLysGluAsnGlnAlaSerIleCysGlnLeuThrLeuAspValLeuGluAsnProAspPheMetArgLeuMetTyrProAspAspAspGluAlaMetLeuGlnLysArgIleArgTyrValValAspLeuTyrLeuAsnThrProAspLysMetGlyTyrAspThrProLeuHisPheAlaCysLysPheGlyAsnAlaAspValValAsnValLeuSerSerHisHisLeuIleValLysAsnSerArgAsnLysTyrAspLysThrProGluAspValIleCysGluArgSerLysAsnLysSerValGluLeuLysGluArgIleArgGluTyrLeuLysGlyHisTyrTyrValProLeuLeuArgAlaGluGluThrSerSerProValIleGlyGluLeuTrpSerProAspGlnThrAlaGluAlaSerHisValSerArgTyrGlyGlySerProArgAspProValLeuThrLeuArgAlaPheAlaGlyProLeuSerProAlaLysAlaGluAspPheArgLysLeuTrpLysThrProProArgGluLysAlaGlyPheLeuHisHisValLysLysSerAspProGluArgGlyPheGluArgValGlyArgGluLeuAlaHisGluLeuGlyTyrProTrpValGluTyrTrpGluPheLeuGlyCysPheValAspLeuSerSerGlnGluGlyLeuGlnArgLeuGluGluTyrLeuThrGlnGlnGluIleGlyLysLysAlaGlnGlnGluThrGlyGluArgGluAlaSerCysArgAspLysAlaThrThrSerGlySerAsnSerIleSerValArgAlaPheLeuAspGluAspAspMetSerLeuGluGluIleLysAsnArgGlnAsnAlaAlaArgAsnAsnSerProProThrValGlyAlaPheGlyHisThrArgCysSerAlaPheProLeuGluGlnGluAlaAspLeuIleGluAlaAlaGluProGlyGlyProHisSerSerArgAsnGlyLeuCysHisProLeuAsnHisSerArgThrLeuAlaGlyLysArgProLysAlaProArgGlyGluGluAlaHisLeuProProValSerAspLeuThrValGluPheAspLysLeuAsnLeuGlnAsnIleGlyArgSerValSerLysThrProAspGluSerThrLysThrLysAspGlnIleLeuThrSerArgIleAsnAlaValGluArgAspLeuLeuGluProSerProAlaAspGlnLeuGlyAsnGlyHisArgArgThrGluSerGluMetSerAlaArgIleAlaLysMetSerLeuSerProSerSerProArgHisGluAspGlnLeuGluValThrArgGluProAlaArgArgLeuPheLeuPheGlyGluGluProSerLysLeuAspGlnAspValLeuAlaAlaLeuGluCysAlaAspValAspProHisGlnPheProAlaValHisArgTrpLysSerAlaValLeuCysTyrSerProSerAspArgGlnSerTrpProSerProAlaValLysGlyArgPheLysSerGlnLeuProAspLeuSerGlyProHisSerTyrSerProGlyArgAsnSerValAlaGlySerAsnProAlaLysProGlyLeuGlySerProGlyArgTyrSerProValHisGlySerGlnLeuArgArgMetAlaArgLeuAlaGluLeuAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668644",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357997.10:c.706C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015114.3:c.706C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350686.5:p.Arg236Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055929.1:p.Arg236Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}