{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413718236",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2402585[alleleid]",
        "alleleId": 2402585,
        "preferredName": "NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2429153",
        "RCV": [
          "RCV003123392"
        ],
        "variationId": 2429153
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76939352T>A?assembly=hg19",
        "id": "chrX:g.76939352T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77683860T>A?assembly=hg38",
        "id": "chrX:g.77683860T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148623651",
        "rs": 2148623651
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77683860,
          "referenceAllele": "T",
          "start": 77683859
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77683860T>A",
        "CM000685.2:g.77683860T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76939352,
          "referenceAllele": "T",
          "start": 76939351
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76939352T>A",
        "CM000685.1:g.76939352T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76826008,
          "referenceAllele": "T",
          "start": 76826007
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76826008T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107362,
          "referenceAllele": "A",
          "start": 107361
        }
      ],
      "hgvs": [
        "NG_008838.2:g.107362A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107410,
          "referenceAllele": "A",
          "start": 107409
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107410A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "A",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1396A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1396A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg466Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg466Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "A",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.1282A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Arg428Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "A",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*1024A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*1024A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "A",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.1231A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Arg411Ter",
        "hgvsWellDefined": "ENSP00000485127.1:p.Arg411_Thr528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Arg466Ter",
        "hgvsWellDefined": "ENSP00000485253.1:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "A",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Arg427Ter",
        "hgvsWellDefined": "ENSP00000485103.1:p.Arg427_Tyr1351del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "A",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.1282A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg428Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1661,
          "referenceAllele": "A",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1393A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg465Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "A",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "A",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.1231A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg411Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "A",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "A",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "A",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.1117A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg373Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.1664A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "A",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1393A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg465Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "A",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "A",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.1231A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg411Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "A",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "A",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.1117A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg373Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "A",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "A",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1393A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Arg465Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "A",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.1276A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Arg426Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "A",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.1228A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Arg410Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "A",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.1282A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Arg428Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "A",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.1279A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Arg427Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "A",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.1165A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Arg389Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "A",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.1162A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Arg388Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "A",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.1114A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Arg372Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1651,
          "referenceAllele": "A",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.1165A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Arg389Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "A",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.1162A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Arg388Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "A",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.1117A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Arg373Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "A",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.1621A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "A",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.1282A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg428Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "A",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1396A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg466Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1396A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1396A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg466Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg466Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "A",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.1282A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg428Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}