{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA232941",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26873[alleleid]",
        "alleleId": 26873,
        "preferredName": "NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11834",
        "RCV": [
          "RCV000012607",
          "RCV000132997"
        ],
        "variationId": 11834
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153295916C>A?assembly=hg19",
        "id": "chrX:g.153295916C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154030465C>A?assembly=hg38",
        "id": "chrX:g.154030465C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894864",
        "rs": 104894864
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154030465,
          "referenceAllele": "C",
          "start": 154030464
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154030465C>A",
        "CM000685.2:g.154030465C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153295916,
          "referenceAllele": "C",
          "start": 153295915
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153295916C>A",
        "CM000685.1:g.153295916C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152949110,
          "referenceAllele": "C",
          "start": 152949109
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152949110C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111663,
          "referenceAllele": "G",
          "start": 111662
        }
      ],
      "hgvs": [
        "NG_007107.2:g.111663G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111639,
          "referenceAllele": "G",
          "start": 111638
        }
      ],
      "hgvs": [
        "NG_007107.3:g.111639G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.1363G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Glu455Ter",
        "hgvsWellDefined": "ENSP00000301948.6:p.Glu455_Ser486delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1363G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1363G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Glu455Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Glu455Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.1399G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Glu467Ter",
        "hgvsWellDefined": "ENSP00000395535.2:p.Glu467_Ser498delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1399G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1399G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Glu467Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Glu467Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.1363G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Glu455Ter",
        "hgvsWellDefined": "ENSP00000301948.6:p.Glu455_Ser486delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "G",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.1399G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Glu467Ter",
        "hgvsWellDefined": "ENSP00000395535.2:p.Glu467_Ser498delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.1363G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Glu455Ter",
        "hgvsWellDefined": "ENSP00000480973.1:p.Glu455_Gly509delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluLeuAlaAspPheThrArgSerGlyLeuGlnSerLysProThrArgIleLysAlaAlaValValSerSerProTyrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.*735G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.*735G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232943",
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "G",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.1399G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Glu467Ter",
        "hgvsWellDefined": "NP_001104262.1:p.Glu467_Ser498delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956329",
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001303266.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232942",
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.1363G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Glu455Ter",
        "hgvsWellDefined": "NP_004983.1:p.Glu455_Ser486delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.1363G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Glu455Ter",
        "hgvsWellDefined": "XP_005274738.1:p.Glu455_Ser486delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "referenceAllele": "G",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Glu362Ter",
        "hgvsWellDefined": "XP_005274739.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1875,
          "referenceAllele": "G",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Glu362Ter",
        "hgvsWellDefined": "XP_005274740.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "referenceAllele": "G",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Glu232Ter",
        "hgvsWellDefined": "XP_006724882.1:p.Glu232_Ser263delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "G",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Glu362Ter",
        "hgvsWellDefined": "XP_011529468.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Glu232Ter",
        "hgvsWellDefined": "XP_006724882.1:p.Glu232_Ser263delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "G",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Glu362Ter",
        "hgvsWellDefined": "XP_011529468.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Glu362Ter",
        "hgvsWellDefined": "XP_024308151.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Glu362Ter",
        "hgvsWellDefined": "XP_024308152.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232943",
      "coordinates": [
        {
          "allele": "T",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.1399G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Glu467Ter",
        "hgvsWellDefined": "NP_001104262.1:p.Glu467_Ser498delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1399G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1399G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Glu467Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Glu467Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956329",
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001303266.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325811",
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001356320.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326676",
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001356321.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327543",
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001356322.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327956",
      "coordinates": [
        {
          "allele": "T",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327956",
      "coordinates": [
        {
          "allele": "T",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.1084G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Glu362Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Glu362_Ser393delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829068926",
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "G",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:p.Glu232Ter",
        "hgvsWellDefined": "NP_001373066.1:p.Glu232_Ser263delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069512",
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Glu232Ter",
        "hgvsWellDefined": "NP_001373067.1:p.Glu232_Ser263delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069972",
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Glu232Ter",
        "hgvsWellDefined": "NP_001373068.1:p.Glu232_Ser263delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232942",
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1363G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Glu455Ter",
        "hgvsWellDefined": "NP_004983.1:p.Glu455_Ser486delinsGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1363G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1363G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Glu455Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Glu455Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}