{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226850",
  "communityStandardTitle": [
    "NM_000330.4(RS1):c.68C>A (p.Ser23Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104910[alleleid]",
        "alleleId": 104910,
        "preferredName": "NM_000330.4(RS1):c.68C>A (p.Ser23Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99020",
        "RCV": [
          "RCV000085362"
        ],
        "variationId": 99020
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18675770G>T?assembly=hg19",
        "id": "chrX:g.18675770G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18657650G>T?assembly=hg38",
        "id": "chrX:g.18657650G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62645882",
        "rs": 62645882
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-18657650-G-T?dataset=gnomad_r4",
        "id": "X-18657650-G-T",
        "variant": "X:18657650 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18657650,
          "referenceAllele": "G",
          "start": 18657649
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18657650G>T",
        "CM000685.2:g.18657650G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18675770,
          "referenceAllele": "G",
          "start": 18675769
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18675770G>T",
        "CM000685.1:g.18675770G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18585691,
          "referenceAllele": "G",
          "start": 18585690
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18585691G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24799,
          "referenceAllele": "C",
          "start": 24798
        }
      ],
      "hgvs": [
        "NG_008659.3:g.24799C>A",
        "LRG_702:g.24799C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108,
          "referenceAllele": "C",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.4:c.68C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Ser23Ter",
        "hgvsWellDefined": "ENSP00000369320.3:p.Ser24_Ala224delinsThrGluAspGluGlyGluAspProTrpTyrGlnLysAlaCysLysCysAspCysGlnGlyGlyProAsnAlaLeuTrpSerAlaGlyAlaThrSerLeuAspCysIleProGluCysProTyrHisLysProLeuGlyPheGluSerGlyGluValThrProAspGlnIleThrCysSerAsnProGluGlnTyrValGlyTrpTyrSerSerTrpThrAlaAsnLysAlaArgLeuAsnSerGlnGlyPheGlyCysAlaTrpLeuSerLysPheGlnAspSerSerGlnTrpLeuGlnIleAspLeuLysGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIleAspGluTrpMetThrLysTyrSerValGlnTyrArgThrAspGluArgLeuAsnTrpIleTyrTyrLysAspGlnThrGlyAsnAsnArgValPheTyrGlyAsnSerAspArgThrSerThrValGlnAsnLeuLeuArgProProIleIleSerArgPheIleArgLeuIleProLeuGlyTrpHisValArgIleAlaIleArgMetGluLeuLeuGluCysValSerLysCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.68C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.68C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Ser23Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Ser23Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.3:c.68C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Ser23Ter",
        "hgvsWellDefined": "ENSP00000369320.3:p.Ser24_Ala224delinsThrGluAspGluGlyGluAspProTrpTyrGlnLysAlaCysLysCysAspCysGlnGlyGlyProAsnAlaLeuTrpSerAlaGlyAlaThrSerLeuAspCysIleProGluCysProTyrHisLysProLeuGlyPheGluSerGlyGluValThrProAspGlnIleThrCysSerAsnProGluGlnTyrValGlyTrpTyrSerSerTrpThrAlaAsnLysAlaArgLeuAsnSerGlnGlyPheGlyCysAlaTrpLeuSerLysPheGlnAspSerSerGlnTrpLeuGlnIleAspLeuLysGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIleAspGluTrpMetThrLysTyrSerValGlnTyrArgThrAspGluArgLeuAsnTrpIleTyrTyrLysAspGlnThrGlyAsnAsnArgValPheTyrGlyAsnSerAspArgThrSerThrValGlnAsnLeuLeuArgProProIleIleSerArgPheIleArgLeuIleProLeuGlyTrpHisValArgIleAlaIleArgMetGluLeuLeuGluCysValSerLysCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226852",
      "coordinates": [
        {
          "allele": "A",
          "end": 103,
          "referenceAllele": "C",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.3:c.68C>A",
        "LRG_702t1:c.68C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Ser23Ter",
        "hgvsWellDefined": "NP_000321.1:p.Ser24_Ala224delinsThrGluAspGluGlyGluAspProTrpTyrGlnLysAlaCysLysCysAspCysGlnGlyGlyProAsnAlaLeuTrpSerAlaGlyAlaThrSerLeuAspCysIleProGluCysProTyrHisLysProLeuGlyPheGluSerGlyGluValThrProAspGlnIleThrCysSerAsnProGluGlnTyrValGlyTrpTyrSerSerTrpThrAlaAsnLysAlaArgLeuAsnSerGlnGlyPheGlyCysAlaTrpLeuSerLysPheGlnAspSerSerGlnTrpLeuGlnIleAspLeuLysGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIleAspGluTrpMetThrLysTyrSerValGlnTyrArgThrAspGluArgLeuAsnTrpIleTyrTyrLysAspGlnThrGlyAsnAsnArgValPheTyrGlyAsnSerAspArgThrSerThrValGlnAsnLeuLeuArgProProIleIleSerArgPheIleArgLeuIleProLeuGlyTrpHisValArgIleAlaIleArgMetGluLeuLeuGluCysValSerLysCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3560,
          "endIntronDirection": "-",
          "endIntronOffset": 3113,
          "referenceAllele": "G",
          "start": 3560,
          "startIntronDirection": "-",
          "startIntronOffset": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.3561-3114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226852",
      "coordinates": [
        {
          "allele": "A",
          "end": 108,
          "referenceAllele": "C",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.4:c.68C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Ser23Ter",
        "hgvsWellDefined": "NP_000321.1:p.Ser24_Ala224delinsThrGluAspGluGlyGluAspProTrpTyrGlnLysAlaCysLysCysAspCysGlnGlyGlyProAsnAlaLeuTrpSerAlaGlyAlaThrSerLeuAspCysIleProGluCysProTyrHisLysProLeuGlyPheGluSerGlyGluValThrProAspGlnIleThrCysSerAsnProGluGlnTyrValGlyTrpTyrSerSerTrpThrAlaAsnLysAlaArgLeuAsnSerGlnGlyPheGlyCysAlaTrpLeuSerLysPheGlnAspSerSerGlnTrpLeuGlnIleAspLeuLysGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIleAspGluTrpMetThrLysTyrSerValGlnTyrArgThrAspGluArgLeuAsnTrpIleTyrTyrLysAspGlnThrGlyAsnAsnArgValPheTyrGlyAsnSerAspArgThrSerThrValGlnAsnLeuLeuArgProProIleIleSerArgPheIleArgLeuIleProLeuGlyTrpHisValArgIleAlaIleArgMetGluLeuLeuGluCysValSerLysCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.68C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.68C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Ser23Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Ser23Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}