{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170498",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153561[alleleid]",
        "alleleId": 153561,
        "preferredName": "NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143829",
        "RCV": [
          "RCV000133380"
        ],
        "variationId": 143829
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18606126G>T?assembly=hg19",
        "id": "chrX:g.18606126G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18588006G>T?assembly=hg38",
        "id": "chrX:g.18588006G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608505",
        "rs": 267608505
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18588006,
          "referenceAllele": "G",
          "start": 18588005
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18588006G>T",
        "CM000685.2:g.18588006G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18606126,
          "referenceAllele": "G",
          "start": 18606125
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18606126G>T",
        "CM000685.1:g.18606126G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18516047,
          "referenceAllele": "G",
          "start": 18516046
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18516047G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167402,
          "referenceAllele": "G",
          "start": 167401
        }
      ],
      "hgvs": [
        "NG_008475.1:g.167402G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000485244.1:p.Glu203_Leu960delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.607G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.607G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Glu203Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Glu203Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000490170.1:p.Glu203_Phe881delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnGlyLeuThrGlnSerLeuArgLeuGluCysSerGlyLysIleMetAlaHisCysSerLeuAspLeuLeuGlySerSerHisSerProIleSerAlaSerArgValThrGlyThrThrGlyThrArgHisHisThrTrpProValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000637881.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489879.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000489879.1:p.Glu203_Asp471del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000501174.1:p.Glu203_Leu1001delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000369325.3:p.Glu203_Lys1030delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000369332.3:p.Glu203_Lys1030delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000463994.4:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485184.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000485184.1:p.Glu203Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000485244.1:p.Glu203_Leu960delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623610.1:n.321G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380113",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_001032420.1:p.Glu203_Lys1030delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170499",
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_003150.1:p.Glu203_Lys1030delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:p.Glu203Ter",
        "hgvsWellDefined": "XP_011543871.1:p.Glu203_Lys1054delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.475G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:p.Glu159Ter",
        "hgvsWellDefined": "XP_011543872.1:p.Glu159_Lys1027delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.859G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827187210",
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_001310218.1:p.Glu203_Leu960delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827187210",
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_001310218.1:p.Glu203_Leu960delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.607G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.607G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Glu203Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Glu203Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380113",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_001032420.1:p.Glu203_Lys1030delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170499",
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_003150.1:p.Glu203_Lys1030delinsLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}