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        "hgvsWellDefined": "ENSP00000340373.3:p.Arg458_Ser754delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260920"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
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      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398956.2:c.1399C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000381929.2:p.Arg467_His529delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyAlaSerAlaIleSerCysSerSerTrpLeuValArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278486"
    },
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        {
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          "end": 1474,
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          "start": 1473
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      "geneNCBI_id": 1859,
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        "ENST00000398960.6:c.1399C>T"
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        "hgvs": "ENSP00000381932.2:p.Arg467Ter",
        "hgvsWellDefined": "ENSP00000381932.2:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
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    },
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        {
          "allele": "T",
          "end": 1474,
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      },
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        {
          "allele": "T",
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      },
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        {
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      },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS062980"
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      "referenceSequence": "http://reg.genome.network/refseq/RS075299"
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN003091",
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      "proteinEffect": {
        "hgvs": "XP_011527785.1:p.Arg467Ter",
        "hgvsWellDefined": "XP_011527785.1:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529484.1:c.1393C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527786.1:p.Arg465Ter",
        "hgvsWellDefined": "XP_011527786.1:p.Arg465_Ser761delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529485.1:c.1285C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527787.1:p.Arg429Ter",
        "hgvsWellDefined": "XP_011527787.1:p.Arg429_Ser725delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827404748",
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347721.1:c.1372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334650.1:p.Arg458Ter",
        "hgvsWellDefined": "NP_001334650.1:p.Arg458_Ser754delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827405350",
      "coordinates": [
        {
          "allele": "T",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347722.1:c.1372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334651.1:p.Arg458Ter",
        "hgvsWellDefined": "NP_001334651.1:p.Arg458_Ser754delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827405922",
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347723.1:c.1285C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334652.1:p.Arg429Ter",
        "hgvsWellDefined": "NP_001334652.1:p.Arg429_Ser725delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA278527",
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.4:c.1399C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:p.Arg467Ter",
        "hgvsWellDefined": "NP_001387.2:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
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      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260933.5:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260990.1:p.Arg239Ter",
        "hgvsWellDefined": "XP_005260990.1:p.Arg239_Ser535delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
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      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723976.3:c.1399C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724039.1:p.Arg467Ter",
        "hgvsWellDefined": "XP_006724039.1:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723977.3:c.1399C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724040.1:p.Arg467Ter",
        "hgvsWellDefined": "XP_006724040.1:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2600,
          "referenceAllele": "C",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723978.3:c.1399C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724041.1:p.Arg467Ter",
        "hgvsWellDefined": "XP_006724041.1:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4414,
          "referenceAllele": "C",
          "start": 4413
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      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
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      "hgvs": [
        "XM_011529483.2:c.1399C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527785.1:p.Arg467Ter",
        "hgvsWellDefined": "XP_011527785.1:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_017028284.1:c.1372C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883773.1:p.Arg458Ter",
        "hgvsWellDefined": "XP_016883773.1:p.Arg458_Ser754delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_017028286.2:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883775.1:p.Arg438Ter",
        "hgvsWellDefined": "XP_016883775.1:p.Arg438_Ser734delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_024452057.1:c.1285C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307825.1:p.Arg429Ter",
        "hgvsWellDefined": "XP_024307825.1:p.Arg429_Ser725delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827404748",
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347721.2:c.1372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334650.1:p.Arg458Ter",
        "hgvsWellDefined": "NP_001334650.1:p.Arg458_Ser754delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647188.2:c.1372C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001347721.2:c.1372C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494572.1:p.Arg458Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001334650.1:p.Arg458Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827405350",
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347722.2:c.1372C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334651.1:p.Arg458Ter",
        "hgvsWellDefined": "NP_001334651.1:p.Arg458_Ser754delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827405922",
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347723.2:c.1285C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334652.1:p.Arg429Ter",
        "hgvsWellDefined": "NP_001334652.1:p.Arg429_Ser725delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA278527",
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.5:c.1399C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:p.Arg467Ter",
        "hgvsWellDefined": "NP_001387.2:p.Arg467_Ser763delinsIleGlnProTyrTyrAlaLeuGlnHisSerPhePheLysLysThrAlaAspGluGlyThrAsnThrSerAsnSerValSerThrSerProAlaMetGluGlnSerGlnSerSerGlyThrThrSerSerThrSerSerSerSerGlyGlySerSerGlyThrSerAsnSerGlyArgAlaArgSerAspProThrHisGlnHisArgHisSerGlyGlyHisPheThrAlaAlaValGlnAlaMetAspCysGluThrHisSerProGlnValArgGlnGlnPheProAlaProLeuGlyTrpSerGlyThrGluAlaProThrGlnValThrValGluThrHisProValGlnGluThrThrPheHisValAlaProGlnGlnAsnAlaLeuHisHisHisHisGlyAsnSerSerHisHisHisHisHisHisHisHisHisHisHisHisHisGlyGlnGlnAlaLeuGlyAsnArgThrArgProArgValTyrAsnSerProThrAsnSerSerSerThrGlnAspSerMetGluValGlyHisSerHisHisSerMetThrSerLeuSerSerSerThrThrSerSerSerThrSerSerSerSerThrGlyAsnGlnGlyAsnGlnAlaTyrGlnAsnArgProValAlaAlaAsnThrLeuAspPheGlyGlnAsnGlyAlaMetAspValAsnLeuThrValTyrSerAsnProArgGlnGluThrGlyIleAlaGlyHisProThrTyrGlnPheSerAlaAsnThrGlyProAlaHisTyrMetThrGluGlyHisLeuThrMetArgGlnGlyAlaAspArgGluGluSerProMetThrGlyValCysValGlnGlnSerProValAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727179"
    }
  ],
  "type": "nucleotide"
}