{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA171618",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=252426",
        "active": true,
        "id": "COSM252426"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153515[alleleid]",
        "alleleId": 153515,
        "preferredName": "NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143783",
        "RCV": [
          "RCV000145523",
          "RCV000170010",
          "RCV000711154",
          "RCV001385702",
          "RCV004532618"
        ],
        "variationId": 143783
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18593503C>T?assembly=hg19",
        "id": "chrX:g.18593503C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18575383C>T?assembly=hg38",
        "id": "chrX:g.18575383C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62653623",
        "rs": 62653623
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18575383,
          "referenceAllele": "C",
          "start": 18575382
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18575383C>T",
        "CM000685.2:g.18575383C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18593503,
          "referenceAllele": "C",
          "start": 18593502
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18593503C>T",
        "CM000685.1:g.18593503C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18503424,
          "referenceAllele": "C",
          "start": 18503423
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18503424C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154779,
          "referenceAllele": "C",
          "start": 154778
        }
      ],
      "hgvs": [
        "NG_008475.1:g.154779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000485244.1:p.Arg59_Leu960delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.175C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.175C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Arg59Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Arg59Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000490170.1:p.Arg59_Phe881delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnGlyLeuThrGlnSerLeuArgLeuGluCysSerGlyLysIleMetAlaHisCysSerLeuAspLeuLeuGlySerSerHisSerProIleSerAlaSerArgValThrGlyThrThrGlyThrArgHisHisThrTrpProValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000637881.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489879.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000489879.1:p.Arg59_Asp471del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000501174.1:p.Arg59_Leu1001delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000369325.3:p.Arg59_Lys1030delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000369332.3:p.Arg59_Lys1030delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000463994.4:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485184.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000485184.1:p.Arg59Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623364.3:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485581.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000485581.1:p.Arg59_Leu61del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000485244.1:p.Arg59_Leu960delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000624700.3:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485359.1:p.Arg59Ter",
        "hgvsWellDefined": "ENSP00000485359.1:p.Arg59Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825379956",
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Arg59Ter",
        "hgvsWellDefined": "NP_001032420.1:p.Arg59_Lys1030delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA171619",
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Arg59Ter",
        "hgvsWellDefined": "NP_003150.1:p.Arg59_Lys1030delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:p.Arg59Ter",
        "hgvsWellDefined": "XP_011543871.1:p.Arg59_Lys1054delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:p.Arg15Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.427C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827187043",
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Arg59Ter",
        "hgvsWellDefined": "NP_001310218.1:p.Arg59_Leu960delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827187043",
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Arg59Ter",
        "hgvsWellDefined": "NP_001310218.1:p.Arg59_Leu960delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.175C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.175C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Arg59Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Arg59Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825379956",
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Arg59Ter",
        "hgvsWellDefined": "NP_001032420.1:p.Arg59_Lys1030delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA171619",
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Arg59Ter",
        "hgvsWellDefined": "NP_003150.1:p.Arg59_Lys1030delinsGluLeuLysMetLeuArgThrLeuLysGlnGluAsnIleValGluLeuLysGluAlaPheArgArgArgGlyLysLeuTyrLeuValPheGluTyrValGluLysAsnMetLeuGluLeuLeuGluGluMetProAsnGlyValProProGluLysValLysSerTyrIleTyrGlnLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}