{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413710117",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1395991[alleleid]",
        "alleleId": 1395991,
        "preferredName": "NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1525935",
        "RCV": [
          "RCV002037060"
        ],
        "variationId": 1525935
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76778836A>G?assembly=hg19",
        "id": "chrX:g.76778836A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77523358A>G?assembly=hg38",
        "id": "chrX:g.77523358A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147761759",
        "rs": 2147761759
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77523358,
          "referenceAllele": "A",
          "start": 77523357
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77523358A>G",
        "CM000685.2:g.77523358A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76778836,
          "referenceAllele": "A",
          "start": 76778835
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76778836A>G",
        "CM000685.1:g.76778836A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76665492,
          "referenceAllele": "A",
          "start": 76665491
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76665492A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267864,
          "referenceAllele": "T",
          "start": 267863
        }
      ],
      "hgvs": [
        "NG_008838.2:g.267864T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267912,
          "referenceAllele": "T",
          "start": 267911
        }
      ],
      "hgvs": [
        "NG_008838.3:g.267912T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6958,
          "referenceAllele": "T",
          "start": 6957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.6743T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ile2248Thr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ile2248Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6743T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6743T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ile2248Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ile2248Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2473,
          "referenceAllele": "T",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.1841T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Ile614Thr",
        "hgvsWellDefined": "ENSP00000502598.1:p.Ile614Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7011,
          "referenceAllele": "T",
          "start": 7010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.6743T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ile2248Thr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ile2248Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6844,
          "referenceAllele": "T",
          "start": 6843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.6629T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Ile2210Thr",
        "hgvsWellDefined": "ENSP00000378967.3:p.Ile2210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7081,
          "referenceAllele": "T",
          "start": 7080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*6371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*6371T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3813,
          "referenceAllele": "T",
          "start": 3812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.3813T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170299",
      "coordinates": [
        {
          "allele": "C",
          "end": 7011,
          "referenceAllele": "T",
          "start": 7010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.6743T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ile2248Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ile2248Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250211",
      "coordinates": [
        {
          "allele": "C",
          "end": 6897,
          "referenceAllele": "T",
          "start": 6896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.6629T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ile2210Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ile2210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7008,
          "referenceAllele": "T",
          "start": 7007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.6740T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ile2247Thr",
        "hgvsWellDefined": "XP_005262210.2:p.Ile2247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6924,
          "referenceAllele": "T",
          "start": 6923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.6656T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ile2219Thr",
        "hgvsWellDefined": "XP_005262211.2:p.Ile2219Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7112,
          "referenceAllele": "T",
          "start": 7111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.6626T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ile2209Thr",
        "hgvsWellDefined": "XP_005262212.2:p.Ile2209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6849,
          "referenceAllele": "T",
          "start": 6848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.6578T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ile2193Thr",
        "hgvsWellDefined": "XP_005262213.2:p.Ile2193Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6807,
          "referenceAllele": "T",
          "start": 6806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.6539T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ile2180Thr",
        "hgvsWellDefined": "XP_005262214.2:p.Ile2180Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6894,
          "referenceAllele": "T",
          "start": 6893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.6626T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ile2209Thr",
        "hgvsWellDefined": "XP_006724729.1:p.Ile2209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6732,
          "referenceAllele": "T",
          "start": 6731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.6464T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ile2155Thr",
        "hgvsWellDefined": "XP_006724730.1:p.Ile2155Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7085,
          "referenceAllele": "T",
          "start": 7084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.7085T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170299",
      "coordinates": [
        {
          "allele": "C",
          "end": 6958,
          "referenceAllele": "T",
          "start": 6957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.6743T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ile2248Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ile2248Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6955,
          "referenceAllele": "T",
          "start": 6954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.6740T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ile2247Thr",
        "hgvsWellDefined": "XP_005262210.2:p.Ile2247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6881,
          "referenceAllele": "T",
          "start": 6880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.6656T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ile2219Thr",
        "hgvsWellDefined": "XP_005262211.2:p.Ile2219Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7112,
          "referenceAllele": "T",
          "start": 7111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.6626T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ile2209Thr",
        "hgvsWellDefined": "XP_005262212.2:p.Ile2209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6864,
          "referenceAllele": "T",
          "start": 6863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.6578T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ile2193Thr",
        "hgvsWellDefined": "XP_005262213.2:p.Ile2193Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6764,
          "referenceAllele": "T",
          "start": 6763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.6539T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ile2180Thr",
        "hgvsWellDefined": "XP_005262214.2:p.Ile2180Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6851,
          "referenceAllele": "T",
          "start": 6850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.6626T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ile2209Thr",
        "hgvsWellDefined": "XP_006724729.1:p.Ile2209Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6750,
          "referenceAllele": "T",
          "start": 6749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.6464T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ile2155Thr",
        "hgvsWellDefined": "XP_006724730.1:p.Ile2155Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6878,
          "referenceAllele": "T",
          "start": 6877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.6653T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Ile2218Thr",
        "hgvsWellDefined": "XP_016885090.1:p.Ile2218Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7092,
          "referenceAllele": "T",
          "start": 7091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.6623T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Ile2208Thr",
        "hgvsWellDefined": "XP_016885091.1:p.Ile2208Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6861,
          "referenceAllele": "T",
          "start": 6860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.6575T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Ile2192Thr",
        "hgvsWellDefined": "XP_016885092.1:p.Ile2192Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6767,
          "referenceAllele": "T",
          "start": 6766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.6542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Ile2181Thr",
        "hgvsWellDefined": "XP_016885093.1:p.Ile2181Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7025,
          "referenceAllele": "T",
          "start": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.6539T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Ile2180Thr",
        "hgvsWellDefined": "XP_016885094.1:p.Ile2180Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6985,
          "referenceAllele": "T",
          "start": 6984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.6512T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Ile2171Thr",
        "hgvsWellDefined": "XP_016885095.1:p.Ile2171Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6978,
          "referenceAllele": "T",
          "start": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.6509T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Ile2170Thr",
        "hgvsWellDefined": "XP_016885096.1:p.Ile2170Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6669,
          "referenceAllele": "T",
          "start": 6668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.6461T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Ile2154Thr",
        "hgvsWellDefined": "XP_016885097.1:p.Ile2154Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6911,
          "referenceAllele": "T",
          "start": 6910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.6425T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Ile2142Thr",
        "hgvsWellDefined": "XP_016885098.1:p.Ile2142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6908,
          "referenceAllele": "T",
          "start": 6907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.6422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Ile2141Thr",
        "hgvsWellDefined": "XP_016885099.1:p.Ile2141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6663,
          "referenceAllele": "T",
          "start": 6662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.6377T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Ile2126Thr",
        "hgvsWellDefined": "XP_016885100.1:p.Ile2126Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7042,
          "referenceAllele": "T",
          "start": 7041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.7042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250211",
      "coordinates": [
        {
          "allele": "C",
          "end": 6844,
          "referenceAllele": "T",
          "start": 6843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.6629T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ile2210Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ile2210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170299",
      "coordinates": [
        {
          "allele": "C",
          "end": 6958,
          "referenceAllele": "T",
          "start": 6957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.6743T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ile2248Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ile2248Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6743T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6743T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ile2248Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ile2248Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250211",
      "coordinates": [
        {
          "allele": "C",
          "end": 6844,
          "referenceAllele": "T",
          "start": 6843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.6629T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ile2210Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ile2210Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}