{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2417968027",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.524G= (p.Arg175=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794734",
        "rs": 1064794734
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 18584323,
          "referenceAllele": "G",
          "start": 18584322
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18584323G=",
        "CM000685.2:g.18584323G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 18602443,
          "referenceAllele": "G",
          "start": 18602442
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18602443G=",
        "CM000685.1:g.18602443G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 18512364,
          "referenceAllele": "G",
          "start": 18512363
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18512364G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163719,
          "referenceAllele": "G",
          "start": 163718
        }
      ],
      "hgvs": [
        "NG_008475.1:g.163719G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.524G="
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.524G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Arg175="
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Arg175="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000637881.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489879.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000463994.4:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485184.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063192497",
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.776G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.524G="
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.524G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Arg175="
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Arg175="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063192497",
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.524G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Arg175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}