{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415174497",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1411171[alleleid]",
        "alleleId": 1411171,
        "preferredName": "NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1501953",
        "RCV": [
          "RCV002010858"
        ],
        "variationId": 1501953
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153296806G>T?assembly=hg19",
        "id": "chrX:g.153296806G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154031355G>T?assembly=hg38",
        "id": "chrX:g.154031355G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28934906",
        "rs": 28934906
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154031355,
          "referenceAllele": "G",
          "start": 154031354
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154031355G>T",
        "CM000685.2:g.154031355G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153296806,
          "referenceAllele": "G",
          "start": 153296805
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296806G>T",
        "CM000685.1:g.153296806G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152950000,
          "referenceAllele": "G",
          "start": 152949999
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152950000G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110773,
          "referenceAllele": "C",
          "start": 110772
        }
      ],
      "hgvs": [
        "NG_007107.2:g.110773C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110749,
          "referenceAllele": "C",
          "start": 110748
        }
      ],
      "hgvs": [
        "NG_007107.3:g.110749C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Thr158Lys",
        "hgvsWellDefined": "ENSP00000301948.6:p.Thr158Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.473C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.473C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Thr158Lys"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Thr158Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.509C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Thr170Lys",
        "hgvsWellDefined": "ENSP00000395535.2:p.Thr170Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.509C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.509C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Thr170Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Thr170Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 65,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000637917.1:c.65+41C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Thr158Lys",
        "hgvsWellDefined": "ENSP00000301948.6:p.Thr158Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 492,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.468+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:n.468+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.509C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Thr170Lys",
        "hgvsWellDefined": "ENSP00000395535.2:p.Thr170Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2821,
          "referenceAllele": "C",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000486506.5:n.2821C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000611468.1:c.461C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479736.1:p.Thr154Lys",
        "hgvsWellDefined": "ENSP00000479736.1:p.Thr154Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Thr158Lys",
        "hgvsWellDefined": "ENSP00000480973.1:p.Thr158Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.461C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Thr154Lys",
        "hgvsWellDefined": "ENSP00000484470.1:p.Thr154Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.432+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.432+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825559250",
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.509C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Thr170Lys",
        "hgvsWellDefined": "NP_001104262.1:p.Thr170Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955648",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001303266.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565021",
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Thr158Lys",
        "hgvsWellDefined": "NP_004983.1:p.Thr158Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "C",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Thr158Lys",
        "hgvsWellDefined": "XP_005274738.1:p.Thr158Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Thr65Lys",
        "hgvsWellDefined": "XP_005274739.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Thr65Lys",
        "hgvsWellDefined": "XP_005274740.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 72,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.-129+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-129+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Thr65Lys",
        "hgvsWellDefined": "XP_011529468.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.-129+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-129+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Thr65Lys",
        "hgvsWellDefined": "XP_011529468.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Thr65Lys",
        "hgvsWellDefined": "XP_024308151.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Thr65Lys",
        "hgvsWellDefined": "XP_024308152.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825559250",
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.509C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Thr170Lys",
        "hgvsWellDefined": "NP_001104262.1:p.Thr170Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.509C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.509C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Thr170Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Thr170Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955648",
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001303266.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325132",
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001356320.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325995",
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001356321.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326861",
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001356322.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573211048",
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001356323.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573211048",
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Thr65Lys",
        "hgvsWellDefined": "NP_001356323.1:p.Thr65Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-129+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-129+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 644,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-129+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-129+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-129+41C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-129+41C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565021",
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.473C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Thr158Lys",
        "hgvsWellDefined": "NP_004983.1:p.Thr158Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.473C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.473C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Thr158Lys"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Thr158Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}