{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170394",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45156[alleleid]",
        "alleleId": 45156,
        "preferredName": "NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36494",
        "RCV": [
          "RCV000030166",
          "RCV000133270",
          "RCV002371791",
          "RCV002274901"
        ],
        "variationId": 36494
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153296381C>T?assembly=hg19",
        "id": "chrX:g.153296381C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154030930C>T?assembly=hg38",
        "id": "chrX:g.154030930C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61751370",
        "rs": 61751370
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154030930-C-T?dataset=gnomad_r3",
        "id": "X-154030930-C-T",
        "variant": "X:154030930 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154030930-C-T?dataset=gnomad_r4",
        "id": "X-154030930-C-T",
        "variant": "X:154030930 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154030930,
          "referenceAllele": "C",
          "start": 154030929
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154030930C>T",
        "CM000685.2:g.154030930C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153296381,
          "referenceAllele": "C",
          "start": 153296380
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296381C>T",
        "CM000685.1:g.153296381C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152949575,
          "referenceAllele": "C",
          "start": 152949574
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152949575C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111198,
          "referenceAllele": "G",
          "start": 111197
        }
      ],
      "hgvs": [
        "NG_007107.2:g.111198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111174,
          "referenceAllele": "G",
          "start": 111173
        }
      ],
      "hgvs": [
        "NG_007107.3:g.111174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Val300Ile",
        "hgvsWellDefined": "ENSP00000301948.6:p.Val300Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.898G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.898G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Val300Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Val300Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Val312Ile",
        "hgvsWellDefined": "ENSP00000395535.2:p.Val312Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.934G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.934G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Val312Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Val312Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000637917.1:c.72G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "G",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Val300Ile",
        "hgvsWellDefined": "ENSP00000301948.6:p.Val300Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.*270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:n.*270G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Val312Ile",
        "hgvsWellDefined": "ENSP00000395535.2:p.Val312Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Val300Ile",
        "hgvsWellDefined": "ENSP00000480973.1:p.Val300Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.884G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Arg295His",
        "hgvsWellDefined": "ENSP00000484470.1:p.Arg295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.*270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.*270G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170396",
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Val312Ile",
        "hgvsWellDefined": "NP_001104262.1:p.Val312Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955923",
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001303266.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170395",
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Val300Ile",
        "hgvsWellDefined": "NP_004983.1:p.Val300Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "referenceAllele": "G",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Val300Ile",
        "hgvsWellDefined": "XP_005274738.1:p.Val300Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Val207Ile",
        "hgvsWellDefined": "XP_005274739.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Val207Ile",
        "hgvsWellDefined": "XP_005274740.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.229G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Val77Ile",
        "hgvsWellDefined": "XP_006724882.1:p.Val77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Val207Ile",
        "hgvsWellDefined": "XP_011529468.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.229G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Val77Ile",
        "hgvsWellDefined": "XP_006724882.1:p.Val77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Val207Ile",
        "hgvsWellDefined": "XP_011529468.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Val207Ile",
        "hgvsWellDefined": "XP_024308151.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Val207Ile",
        "hgvsWellDefined": "XP_024308152.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170396",
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Val312Ile",
        "hgvsWellDefined": "NP_001104262.1:p.Val312Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.934G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.934G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Val312Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Val312Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955923",
      "coordinates": [
        {
          "allele": "A",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001303266.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325407",
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001356320.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326272",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001356321.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001356322.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328077",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001356323.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328077",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Val207Ile",
        "hgvsWellDefined": "NP_001356323.1:p.Val207Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829068536",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.229G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:p.Val77Ile",
        "hgvsWellDefined": "NP_001373066.1:p.Val77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069123",
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.229G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Val77Ile",
        "hgvsWellDefined": "NP_001373067.1:p.Val77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573078738",
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.229G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Val77Ile",
        "hgvsWellDefined": "NP_001373068.1:p.Val77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170395",
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Val300Ile",
        "hgvsWellDefined": "NP_004983.1:p.Val300Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.898G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.898G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Val300Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Val300Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}