{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2417987312",
  "communityStandardTitle": [
    "NM_000330.4(RS1):c.376G= (p.Asp126=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199469698",
        "rs": 199469698
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18644576,
          "referenceAllele": "C",
          "start": 18644575
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18644576C=",
        "CM000685.2:g.18644576C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18662696,
          "referenceAllele": "C",
          "start": 18662695
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18662696C=",
        "CM000685.1:g.18662696C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18572617,
          "referenceAllele": "C",
          "start": 18572616
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18572617C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 223972,
          "referenceAllele": "C",
          "start": 223971
        }
      ],
      "hgvs": [
        "NG_008475.1:g.223972C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37873,
          "referenceAllele": "G",
          "start": 37872
        }
      ],
      "hgvs": [
        "NG_008659.3:g.37873G=",
        "LRG_702:g.37873G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.4:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.376G="
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.376G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Asp126="
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Asp126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 417,
          "referenceAllele": "G",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.3:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2998,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 2998,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.2714-1431C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:n.2714-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2988,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 2988,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.2714-1431C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:n.2714-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000476595.1:n.867G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063216114",
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.3:c.376G=",
        "LRG_702t1:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2962,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 2962,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.2714-1431C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2714-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2966,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 2966,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.2714-1431C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2714-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3037,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 3037,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.2786-1431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:n.2786-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3042,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 3042,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.2705-1431C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:n.2705-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3088,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 3088,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.3089-1431C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063216114",
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.4:c.376G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.376G="
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.376G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Asp126="
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Asp126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2962,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 2962,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.2714-1431C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2714-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2963,
          "endIntronDirection": "-",
          "endIntronOffset": 1430,
          "referenceAllele": "C",
          "start": 2963,
          "startIntronDirection": "-",
          "startIntronOffset": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.2714-1431C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2714-1431C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}