{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270428",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153314[alleleid]",
        "alleleId": 153314,
        "preferredName": "NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143582",
        "RCV": [
          "RCV000133120"
        ],
        "variationId": 143582
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153296812T>G?assembly=hg19",
        "id": "chrX:g.153296812T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154031361T>G?assembly=hg38",
        "id": "chrX:g.154031361T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61748407",
        "rs": 61748407
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154031361,
          "referenceAllele": "T",
          "start": 154031360
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154031361T>G",
        "CM000685.2:g.154031361T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153296812,
          "referenceAllele": "T",
          "start": 153296811
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296812T>G",
        "CM000685.1:g.153296812T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152950006,
          "referenceAllele": "T",
          "start": 152950005
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152950006T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110767,
          "referenceAllele": "A",
          "start": 110766
        }
      ],
      "hgvs": [
        "NG_007107.2:g.110767A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110743,
          "referenceAllele": "A",
          "start": 110742
        }
      ],
      "hgvs": [
        "NG_007107.3:g.110743A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "A",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.467A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Asp156Ala",
        "hgvsWellDefined": "ENSP00000301948.6:p.Asp156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.467A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.467A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Asp156Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Asp156Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.503A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Asp168Ala",
        "hgvsWellDefined": "ENSP00000395535.2:p.Asp168Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.503A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.503A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Asp168Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Asp168Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 65,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000637917.1:c.65+35A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "referenceAllele": "A",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.467A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Asp156Ala",
        "hgvsWellDefined": "ENSP00000301948.6:p.Asp156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 492,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.468+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:n.468+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.503A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Asp168Ala",
        "hgvsWellDefined": "ENSP00000395535.2:p.Asp168Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2815,
          "referenceAllele": "A",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000486506.5:n.2815A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "A",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000611468.1:c.455A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479736.1:p.Asp152Ala",
        "hgvsWellDefined": "ENSP00000479736.1:p.Asp152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.467A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Asp156Ala",
        "hgvsWellDefined": "ENSP00000480973.1:p.Asp156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "A",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.455A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Asp152Ala",
        "hgvsWellDefined": "ENSP00000484470.1:p.Asp152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.432+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.432+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270430",
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "A",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.503A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Asp168Ala",
        "hgvsWellDefined": "NP_001104262.1:p.Asp168Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955641",
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001303266.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270429",
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.467A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Asp156Ala",
        "hgvsWellDefined": "NP_004983.1:p.Asp156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.467A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Asp156Ala",
        "hgvsWellDefined": "XP_005274738.1:p.Asp156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Asp63Ala",
        "hgvsWellDefined": "XP_005274739.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 979,
          "referenceAllele": "A",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Asp63Ala",
        "hgvsWellDefined": "XP_005274740.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 72,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.-129+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-129+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Asp63Ala",
        "hgvsWellDefined": "XP_011529468.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.-129+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-129+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Asp63Ala",
        "hgvsWellDefined": "XP_011529468.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Asp63Ala",
        "hgvsWellDefined": "XP_024308151.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "A",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Asp63Ala",
        "hgvsWellDefined": "XP_024308152.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270430",
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.503A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Asp168Ala",
        "hgvsWellDefined": "NP_001104262.1:p.Asp168Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.503A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.503A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Asp168Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Asp168Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955641",
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "referenceAllele": "A",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001303266.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325124",
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001356320.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325988",
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001356321.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326857",
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "A",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001356322.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047779",
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "A",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001356323.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047779",
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "A",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.188A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Asp63Ala",
        "hgvsWellDefined": "NP_001356323.1:p.Asp63Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-129+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-129+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 644,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-129+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-129+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "A",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-129+35A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-129+35A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270429",
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "A",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.467A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Asp156Ala",
        "hgvsWellDefined": "NP_004983.1:p.Asp156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.467A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.467A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Asp156Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Asp156Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}