{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270330",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.338C>A (p.Pro113His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153257[alleleid]",
        "alleleId": 153257,
        "preferredName": "NM_001110792.2(MECP2):c.338C>A (p.Pro113His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143525",
        "RCV": [
          "RCV000133057"
        ],
        "variationId": 143525
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153297733G>T?assembly=hg19",
        "id": "chrX:g.153297733G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154032282G>T?assembly=hg38",
        "id": "chrX:g.154032282G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61754453",
        "rs": 61754453
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154032282,
          "referenceAllele": "G",
          "start": 154032281
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154032282G>T",
        "CM000685.2:g.154032282G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153297733,
          "referenceAllele": "G",
          "start": 153297732
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153297733G>T",
        "CM000685.1:g.153297733G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152950927,
          "referenceAllele": "G",
          "start": 152950926
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152950927G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109846,
          "referenceAllele": "C",
          "start": 109845
        }
      ],
      "hgvs": [
        "NG_007107.2:g.109846C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109822,
          "referenceAllele": "C",
          "start": 109821
        }
      ],
      "hgvs": [
        "NG_007107.3:g.109822C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Pro101His",
        "hgvsWellDefined": "ENSP00000301948.6:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.302C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.302C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Pro101His"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Pro101His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.338C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Pro113His",
        "hgvsWellDefined": "ENSP00000395535.2:p.Pro113His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.338C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.338C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Pro113His"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Pro113His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Pro101His",
        "hgvsWellDefined": "ENSP00000301948.6:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000369957.5:c.*356C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358973.4:n.*356C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.338C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:p.Pro113His",
        "hgvsWellDefined": "ENSP00000384865.2:p.Pro113His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.338C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Pro113His",
        "hgvsWellDefined": "ENSP00000395535.2:p.Pro113His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2650,
          "referenceAllele": "C",
          "start": 2649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000486506.5:n.2650C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000611468.1:c.290C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479736.1:p.Pro97His",
        "hgvsWellDefined": "ENSP00000479736.1:p.Pro97His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Pro101His",
        "hgvsWellDefined": "ENSP00000480973.1:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.290C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Pro97His",
        "hgvsWellDefined": "ENSP00000484470.1:p.Pro97His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:p.Pro101His",
        "hgvsWellDefined": "ENSP00000486978.1:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270331",
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.338C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Pro113His",
        "hgvsWellDefined": "NP_001104262.1:p.Pro113His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955525",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Pro8His",
        "hgvsWellDefined": "NP_001303266.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099376",
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Pro101His",
        "hgvsWellDefined": "NP_004983.1:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Pro101His",
        "hgvsWellDefined": "XP_005274738.1:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Pro8His",
        "hgvsWellDefined": "XP_005274739.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Pro8His",
        "hgvsWellDefined": "XP_005274740.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Pro8His",
        "hgvsWellDefined": "XP_011529468.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.-259C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-259C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Pro8His",
        "hgvsWellDefined": "XP_011529468.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Pro8His",
        "hgvsWellDefined": "XP_024308151.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Pro8His",
        "hgvsWellDefined": "XP_024308152.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270331",
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.338C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Pro113His",
        "hgvsWellDefined": "NP_001104262.1:p.Pro113His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.338C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.338C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Pro113His"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Pro113His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955525",
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Pro8His",
        "hgvsWellDefined": "NP_001303266.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325007",
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Pro8His",
        "hgvsWellDefined": "NP_001356320.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325874",
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Pro8His",
        "hgvsWellDefined": "NP_001356321.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326740",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Pro8His",
        "hgvsWellDefined": "NP_001356322.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047723",
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Pro8His",
        "hgvsWellDefined": "NP_001356323.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047723",
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Pro8His",
        "hgvsWellDefined": "NP_001356323.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-259C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-259C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-259C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-259C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-259C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-259C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099376",
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.302C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Pro101His",
        "hgvsWellDefined": "NP_004983.1:p.Pro101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.302C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.302C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Pro101His"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Pro101His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}