{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270379",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153286[alleleid]",
        "alleleId": 153286,
        "preferredName": "NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143554",
        "RCV": [
          "RCV000133087",
          "RCV003522931",
          "RCV002362775"
        ],
        "variationId": 143554
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153296896T>G?assembly=hg19",
        "id": "chrX:g.153296896T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154031445T>G?assembly=hg38",
        "id": "chrX:g.154031445T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61748383",
        "rs": 61748383
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154031445,
          "referenceAllele": "T",
          "start": 154031444
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154031445T>G",
        "CM000685.2:g.154031445T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153296896,
          "referenceAllele": "T",
          "start": 153296895
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296896T>G",
        "CM000685.1:g.153296896T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152950090,
          "referenceAllele": "T",
          "start": 152950089
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152950090T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110683,
          "referenceAllele": "A",
          "start": 110682
        }
      ],
      "hgvs": [
        "NG_007107.2:g.110683A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110659,
          "referenceAllele": "A",
          "start": 110658
        }
      ],
      "hgvs": [
        "NG_007107.3:g.110659A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Gln128Pro",
        "hgvsWellDefined": "ENSP00000301948.6:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.383A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.383A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Gln128Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Gln128Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Gln140Pro",
        "hgvsWellDefined": "ENSP00000395535.2:p.Gln140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.419A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.419A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Gln140Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Gln140Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16,
          "referenceAllele": "A",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000637917.1:c.16A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "A",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Gln128Pro",
        "hgvsWellDefined": "ENSP00000301948.6:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000369957.5:c.*437A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358973.4:n.*437A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:p.Gln140Pro",
        "hgvsWellDefined": "ENSP00000384865.2:p.Gln140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Gln140Pro",
        "hgvsWellDefined": "ENSP00000395535.2:p.Gln140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2731,
          "referenceAllele": "A",
          "start": 2730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000486506.5:n.2731A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000611468.1:c.371A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479736.1:p.Gln124Pro",
        "hgvsWellDefined": "ENSP00000479736.1:p.Gln124Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Gln128Pro",
        "hgvsWellDefined": "ENSP00000480973.1:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.371A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Gln124Pro",
        "hgvsWellDefined": "ENSP00000484470.1:p.Gln124Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 615,
          "referenceAllele": "A",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:p.Gln128Pro",
        "hgvsWellDefined": "ENSP00000486978.1:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270380",
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "A",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Gln140Pro",
        "hgvsWellDefined": "NP_001104262.1:p.Gln140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955578",
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "A",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001303266.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099237",
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Gln128Pro",
        "hgvsWellDefined": "NP_004983.1:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Gln128Pro",
        "hgvsWellDefined": "XP_005274738.1:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Gln35Pro",
        "hgvsWellDefined": "XP_005274739.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "referenceAllele": "A",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Gln35Pro",
        "hgvsWellDefined": "XP_005274740.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23,
          "referenceAllele": "A",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.-178A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-178A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Gln35Pro",
        "hgvsWellDefined": "XP_011529468.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "A",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.-178A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-178A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Gln35Pro",
        "hgvsWellDefined": "XP_011529468.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Gln35Pro",
        "hgvsWellDefined": "XP_024308151.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Gln35Pro",
        "hgvsWellDefined": "XP_024308152.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270380",
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.419A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Gln140Pro",
        "hgvsWellDefined": "NP_001104262.1:p.Gln140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.419A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.419A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Gln140Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Gln140Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955578",
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001303266.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325059",
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "A",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001356320.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325926",
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001356321.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326792",
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "A",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001356322.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047750",
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001356323.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047750",
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.104A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Gln35Pro",
        "hgvsWellDefined": "NP_001356323.1:p.Gln35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-178A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-178A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-178A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-178A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-178A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-178A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099237",
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.383A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Gln128Pro",
        "hgvsWellDefined": "NP_004983.1:p.Gln128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.383A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.383A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Gln128Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Gln128Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}