{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10457540",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1150960[alleleid]",
        "alleleId": 1150960,
        "preferredName": "NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1146025",
        "RCV": [
          "RCV001485124",
          "RCV003238373"
        ],
        "variationId": 1146025
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76845314-A-G",
        "id": "X-76845314-A-G",
        "variant": "X:76845314 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76845314A>G?assembly=hg19",
        "id": "chrX:g.76845314A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77589844A>G?assembly=hg38",
        "id": "chrX:g.77589844A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369953134",
        "rs": 369953134
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76845314-A-G?dataset=gnomad_r2_1",
        "id": "X-76845314-A-G",
        "variant": "X:76845314 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77589844-A-G?dataset=gnomad_r3",
        "id": "X-77589844-A-G",
        "variant": "X:77589844 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77589844-A-G?dataset=gnomad_r4",
        "id": "X-77589844-A-G",
        "variant": "X:77589844 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77589844,
          "referenceAllele": "A",
          "start": 77589843
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77589844A>G",
        "CM000685.2:g.77589844A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76845314,
          "referenceAllele": "A",
          "start": 76845313
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76845314A>G",
        "CM000685.1:g.76845314A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76731970,
          "referenceAllele": "A",
          "start": 76731969
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76731970A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201378,
          "referenceAllele": "T",
          "start": 201377
        }
      ],
      "hgvs": [
        "NG_008838.2:g.201378T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201426,
          "referenceAllele": "T",
          "start": 201425
        }
      ],
      "hgvs": [
        "NG_008838.3:g.201426T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6422,
          "referenceAllele": "T",
          "start": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.6207T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Leu2069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6207T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6207T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Leu2069="
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Leu2069="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "referenceAllele": "T",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000636868.1:n.29T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1937,
          "referenceAllele": "T",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.1305T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Leu435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6475,
          "referenceAllele": "T",
          "start": 6474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.6207T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Leu2069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6308,
          "referenceAllele": "T",
          "start": 6307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.6093T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Leu2031="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6545,
          "referenceAllele": "T",
          "start": 6544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*5835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*5835T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "T",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623316.1:c.691T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3277,
          "referenceAllele": "T",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.3277T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191629",
      "coordinates": [
        {
          "allele": "C",
          "end": 6475,
          "referenceAllele": "T",
          "start": 6474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.6207T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Leu2069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250129",
      "coordinates": [
        {
          "allele": "C",
          "end": 6361,
          "referenceAllele": "T",
          "start": 6360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.6093T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Leu2031="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6472,
          "referenceAllele": "T",
          "start": 6471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.6204T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Leu2068="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6388,
          "referenceAllele": "T",
          "start": 6387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.6120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Leu2040="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6576,
          "referenceAllele": "T",
          "start": 6575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.6090T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Leu2030="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6313,
          "referenceAllele": "T",
          "start": 6312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.6042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Leu2014="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6271,
          "referenceAllele": "T",
          "start": 6270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.6003T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Leu2001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6358,
          "referenceAllele": "T",
          "start": 6357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.6090T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Leu2030="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6196,
          "referenceAllele": "T",
          "start": 6195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.5928T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Leu1976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6549,
          "referenceAllele": "T",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.6549T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191629",
      "coordinates": [
        {
          "allele": "C",
          "end": 6422,
          "referenceAllele": "T",
          "start": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.6207T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Leu2069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6419,
          "referenceAllele": "T",
          "start": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.6204T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Leu2068="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6345,
          "referenceAllele": "T",
          "start": 6344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.6120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Leu2040="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6576,
          "referenceAllele": "T",
          "start": 6575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.6090T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Leu2030="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6328,
          "referenceAllele": "T",
          "start": 6327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.6042T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Leu2014="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6228,
          "referenceAllele": "T",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.6003T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Leu2001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6315,
          "referenceAllele": "T",
          "start": 6314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.6090T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Leu2030="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6214,
          "referenceAllele": "T",
          "start": 6213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.5928T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Leu1976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6342,
          "referenceAllele": "T",
          "start": 6341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.6117T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Leu2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6556,
          "referenceAllele": "T",
          "start": 6555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.6087T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Leu2029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6325,
          "referenceAllele": "T",
          "start": 6324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.6039T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Leu2013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6231,
          "referenceAllele": "T",
          "start": 6230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.6006T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Leu2002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6489,
          "referenceAllele": "T",
          "start": 6488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.6003T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Leu2001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6449,
          "referenceAllele": "T",
          "start": 6448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.5976T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Leu1992="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6442,
          "referenceAllele": "T",
          "start": 6441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.5973T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Leu1991="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6133,
          "referenceAllele": "T",
          "start": 6132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.5925T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Leu1975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6375,
          "referenceAllele": "T",
          "start": 6374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.5889T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Leu1963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6372,
          "referenceAllele": "T",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.5886T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Leu1962="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6127,
          "referenceAllele": "T",
          "start": 6126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.5841T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Leu1947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6506,
          "referenceAllele": "T",
          "start": 6505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.6506T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250129",
      "coordinates": [
        {
          "allele": "C",
          "end": 6308,
          "referenceAllele": "T",
          "start": 6307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.6093T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Leu2031="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191629",
      "coordinates": [
        {
          "allele": "C",
          "end": 6422,
          "referenceAllele": "T",
          "start": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.6207T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Leu2069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6207T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6207T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Leu2069="
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Leu2069="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250129",
      "coordinates": [
        {
          "allele": "C",
          "end": 6308,
          "referenceAllele": "T",
          "start": 6307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.6093T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Leu2031="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}