{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10458045",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159873[alleleid]",
        "alleleId": 1159873,
        "preferredName": "NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1168773",
        "RCV": [
          "RCV001519253"
        ],
        "variationId": 1168773
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76938065-C-G",
        "id": "X-76938065-C-G",
        "variant": "X:76938065 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76938065C>G?assembly=hg19",
        "id": "chrX:g.76938065C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77682573C>G?assembly=hg38",
        "id": "chrX:g.77682573C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782529714",
        "rs": 782529714
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76938065-C-G?dataset=gnomad_r2_1",
        "id": "X-76938065-C-G",
        "variant": "X:76938065 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682573-C-G?dataset=gnomad_r3",
        "id": "X-77682573-C-G",
        "variant": "X:77682573 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682573-C-G?dataset=gnomad_r4",
        "id": "X-77682573-C-G",
        "variant": "X:77682573 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77682573,
          "referenceAllele": "C",
          "start": 77682572
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77682573C>G",
        "CM000685.2:g.77682573C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76938065,
          "referenceAllele": "C",
          "start": 76938064
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76938065C>G",
        "CM000685.1:g.76938065C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76824721,
          "referenceAllele": "C",
          "start": 76824720
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76824721C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108649,
          "referenceAllele": "G",
          "start": 108648
        }
      ],
      "hgvs": [
        "NG_008838.2:g.108649G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108697,
          "referenceAllele": "G",
          "start": 108696
        }
      ],
      "hgvs": [
        "NG_008838.3:g.108697G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2898,
          "referenceAllele": "G",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Val895Leu",
        "hgvsWellDefined": "ENSP00000362441.4:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2683G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2683G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Val895Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Val895Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2951,
          "referenceAllele": "G",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Val895Leu",
        "hgvsWellDefined": "ENSP00000362441.4:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2784,
          "referenceAllele": "G",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.2569G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Val857Leu",
        "hgvsWellDefined": "ENSP00000378967.3:p.Val857Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3021,
          "referenceAllele": "G",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*2311G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*2311G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2803,
          "referenceAllele": "G",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.2596G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Val866Leu",
        "hgvsWellDefined": "ENSP00000485253.1:p.Val866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2698,
          "referenceAllele": "G",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.2479G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Val827Leu",
        "hgvsWellDefined": "ENSP00000485103.1:p.Val827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232810",
      "coordinates": [
        {
          "allele": "C",
          "end": 2951,
          "referenceAllele": "G",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Val895Leu",
        "hgvsWellDefined": "NP_000480.3:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249370",
      "coordinates": [
        {
          "allele": "C",
          "end": 2837,
          "referenceAllele": "G",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.2569G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Val857Leu",
        "hgvsWellDefined": "NP_612114.2:p.Val857Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2948,
          "referenceAllele": "G",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.2680G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Val894Leu",
        "hgvsWellDefined": "XP_005262210.2:p.Val894Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2864,
          "referenceAllele": "G",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.2596G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Val866Leu",
        "hgvsWellDefined": "XP_005262211.2:p.Val866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3052,
          "referenceAllele": "G",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.2566G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Val856Leu",
        "hgvsWellDefined": "XP_005262212.2:p.Val856Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.2518G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Val840Leu",
        "hgvsWellDefined": "XP_005262213.2:p.Val840Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2747,
          "referenceAllele": "G",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.2479G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Val827Leu",
        "hgvsWellDefined": "XP_005262214.2:p.Val827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.2566G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Val856Leu",
        "hgvsWellDefined": "XP_006724729.1:p.Val856Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2672,
          "referenceAllele": "G",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.2404G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Val802Leu",
        "hgvsWellDefined": "XP_006724730.1:p.Val802Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2951,
          "referenceAllele": "G",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Val895Leu",
        "hgvsWellDefined": "XP_006724731.1:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2951,
          "referenceAllele": "G",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.2951G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232810",
      "coordinates": [
        {
          "allele": "C",
          "end": 2898,
          "referenceAllele": "G",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Val895Leu",
        "hgvsWellDefined": "NP_000480.3:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2895,
          "referenceAllele": "G",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.2680G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Val894Leu",
        "hgvsWellDefined": "XP_005262210.2:p.Val894Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2821,
          "referenceAllele": "G",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.2596G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Val866Leu",
        "hgvsWellDefined": "XP_005262211.2:p.Val866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3052,
          "referenceAllele": "G",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.2566G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Val856Leu",
        "hgvsWellDefined": "XP_005262212.2:p.Val856Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2804,
          "referenceAllele": "G",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.2518G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Val840Leu",
        "hgvsWellDefined": "XP_005262213.2:p.Val840Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.2479G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Val827Leu",
        "hgvsWellDefined": "XP_005262214.2:p.Val827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.2566G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Val856Leu",
        "hgvsWellDefined": "XP_006724729.1:p.Val856Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2690,
          "referenceAllele": "G",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.2404G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Val802Leu",
        "hgvsWellDefined": "XP_006724730.1:p.Val802Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Val895Leu",
        "hgvsWellDefined": "XP_006724731.1:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2818,
          "referenceAllele": "G",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Val865Leu",
        "hgvsWellDefined": "XP_016885090.1:p.Val865Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3032,
          "referenceAllele": "G",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.2563G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Val855Leu",
        "hgvsWellDefined": "XP_016885091.1:p.Val855Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2801,
          "referenceAllele": "G",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.2515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Val839Leu",
        "hgvsWellDefined": "XP_016885092.1:p.Val839Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2707,
          "referenceAllele": "G",
          "start": 2706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.2482G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Val828Leu",
        "hgvsWellDefined": "XP_016885093.1:p.Val828Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2965,
          "referenceAllele": "G",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.2479G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Val827Leu",
        "hgvsWellDefined": "XP_016885094.1:p.Val827Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2925,
          "referenceAllele": "G",
          "start": 2924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.2452G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Val818Leu",
        "hgvsWellDefined": "XP_016885095.1:p.Val818Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2918,
          "referenceAllele": "G",
          "start": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.2449G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Val817Leu",
        "hgvsWellDefined": "XP_016885096.1:p.Val817Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2609,
          "referenceAllele": "G",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.2401G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Val801Leu",
        "hgvsWellDefined": "XP_016885097.1:p.Val801Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2851,
          "referenceAllele": "G",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.2365G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Val789Leu",
        "hgvsWellDefined": "XP_016885098.1:p.Val789Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2848,
          "referenceAllele": "G",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.2362G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Val788Leu",
        "hgvsWellDefined": "XP_016885099.1:p.Val788Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.2317G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Val773Leu",
        "hgvsWellDefined": "XP_016885100.1:p.Val773Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.2908G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249370",
      "coordinates": [
        {
          "allele": "C",
          "end": 2784,
          "referenceAllele": "G",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.2569G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Val857Leu",
        "hgvsWellDefined": "NP_612114.2:p.Val857Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232810",
      "coordinates": [
        {
          "allele": "C",
          "end": 2898,
          "referenceAllele": "G",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.2683G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Val895Leu",
        "hgvsWellDefined": "NP_000480.3:p.Val895Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2683G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2683G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Val895Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Val895Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249370",
      "coordinates": [
        {
          "allele": "C",
          "end": 2784,
          "referenceAllele": "G",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.2569G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Val857Leu",
        "hgvsWellDefined": "NP_612114.2:p.Val857Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}