{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413699660",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=574915[alleleid]",
        "alleleId": 574915,
        "preferredName": "NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571718",
        "RCV": [
          "RCV000692936",
          "RCV000764879",
          "RCV003442025"
        ],
        "variationId": 571718
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76918987C>A?assembly=hg19",
        "id": "chrX:g.76918987C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77663498C>A?assembly=hg38",
        "id": "chrX:g.77663498C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569536694",
        "rs": 1569536694
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77663498,
          "referenceAllele": "C",
          "start": 77663497
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77663498C>A",
        "CM000685.2:g.77663498C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76918987,
          "referenceAllele": "C",
          "start": 76918986
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76918987C>A",
        "CM000685.1:g.76918987C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76805643,
          "referenceAllele": "C",
          "start": 76805642
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76805643C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127724,
          "referenceAllele": "G",
          "start": 127723
        }
      ],
      "hgvs": [
        "NG_008838.2:g.127724G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127772,
          "referenceAllele": "G",
          "start": 127771
        }
      ],
      "hgvs": [
        "NG_008838.3:g.127772G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg1335Ile",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4004G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4004G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg1335Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg1335Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg1335Ile",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4105,
          "referenceAllele": "G",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.3890G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Arg1297Ile",
        "hgvsWellDefined": "ENSP00000378967.3:p.Arg1297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4342,
          "referenceAllele": "G",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*3632G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*3632G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4019,
          "referenceAllele": "G",
          "start": 4018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.3800G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Arg1267Ile",
        "hgvsWellDefined": "ENSP00000485103.1:p.Arg1267Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848563",
      "coordinates": [
        {
          "allele": "T",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg1335Ile",
        "hgvsWellDefined": "NP_000480.3:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249730",
      "coordinates": [
        {
          "allele": "T",
          "end": 4158,
          "referenceAllele": "G",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.3890G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg1297Ile",
        "hgvsWellDefined": "NP_612114.2:p.Arg1297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4269,
          "referenceAllele": "G",
          "start": 4268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.4001G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg1334Ile",
        "hgvsWellDefined": "XP_005262210.2:p.Arg1334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4185,
          "referenceAllele": "G",
          "start": 4184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.3917G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg1306Ile",
        "hgvsWellDefined": "XP_005262211.2:p.Arg1306Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4373,
          "referenceAllele": "G",
          "start": 4372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.3887G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg1296Ile",
        "hgvsWellDefined": "XP_005262212.2:p.Arg1296Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4110,
          "referenceAllele": "G",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.3839G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg1280Ile",
        "hgvsWellDefined": "XP_005262213.2:p.Arg1280Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4068,
          "referenceAllele": "G",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.3800G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg1267Ile",
        "hgvsWellDefined": "XP_005262214.2:p.Arg1267Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4155,
          "referenceAllele": "G",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.3887G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg1296Ile",
        "hgvsWellDefined": "XP_006724729.1:p.Arg1296Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3993,
          "referenceAllele": "G",
          "start": 3992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.3725G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg1242Ile",
        "hgvsWellDefined": "XP_006724730.1:p.Arg1242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Arg1335Ile",
        "hgvsWellDefined": "XP_006724731.1:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.4272G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848563",
      "coordinates": [
        {
          "allele": "T",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg1335Ile",
        "hgvsWellDefined": "NP_000480.3:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.4001G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg1334Ile",
        "hgvsWellDefined": "XP_005262210.2:p.Arg1334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4142,
          "referenceAllele": "G",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.3917G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg1306Ile",
        "hgvsWellDefined": "XP_005262211.2:p.Arg1306Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4373,
          "referenceAllele": "G",
          "start": 4372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.3887G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg1296Ile",
        "hgvsWellDefined": "XP_005262212.2:p.Arg1296Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4125,
          "referenceAllele": "G",
          "start": 4124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.3839G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg1280Ile",
        "hgvsWellDefined": "XP_005262213.2:p.Arg1280Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4025,
          "referenceAllele": "G",
          "start": 4024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.3800G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg1267Ile",
        "hgvsWellDefined": "XP_005262214.2:p.Arg1267Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4112,
          "referenceAllele": "G",
          "start": 4111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.3887G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg1296Ile",
        "hgvsWellDefined": "XP_006724729.1:p.Arg1296Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4011,
          "referenceAllele": "G",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.3725G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg1242Ile",
        "hgvsWellDefined": "XP_006724730.1:p.Arg1242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4229,
          "referenceAllele": "G",
          "start": 4228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Arg1335Ile",
        "hgvsWellDefined": "XP_006724731.1:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4139,
          "referenceAllele": "G",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.3914G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Arg1305Ile",
        "hgvsWellDefined": "XP_016885090.1:p.Arg1305Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4353,
          "referenceAllele": "G",
          "start": 4352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.3884G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Arg1295Ile",
        "hgvsWellDefined": "XP_016885091.1:p.Arg1295Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4122,
          "referenceAllele": "G",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.3836G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Arg1279Ile",
        "hgvsWellDefined": "XP_016885092.1:p.Arg1279Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "referenceAllele": "G",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.3803G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Arg1268Ile",
        "hgvsWellDefined": "XP_016885093.1:p.Arg1268Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4286,
          "referenceAllele": "G",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.3800G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Arg1267Ile",
        "hgvsWellDefined": "XP_016885094.1:p.Arg1267Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4246,
          "referenceAllele": "G",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.3773G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Arg1258Ile",
        "hgvsWellDefined": "XP_016885095.1:p.Arg1258Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "G",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.3770G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Arg1257Ile",
        "hgvsWellDefined": "XP_016885096.1:p.Arg1257Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3930,
          "referenceAllele": "G",
          "start": 3929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.3722G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Arg1241Ile",
        "hgvsWellDefined": "XP_016885097.1:p.Arg1241Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4172,
          "referenceAllele": "G",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.3686G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Arg1229Ile",
        "hgvsWellDefined": "XP_016885098.1:p.Arg1229Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.3683G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Arg1228Ile",
        "hgvsWellDefined": "XP_016885099.1:p.Arg1228Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3924,
          "referenceAllele": "G",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.3638G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Arg1213Ile",
        "hgvsWellDefined": "XP_016885100.1:p.Arg1213Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4229,
          "referenceAllele": "G",
          "start": 4228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.4229G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249730",
      "coordinates": [
        {
          "allele": "T",
          "end": 4105,
          "referenceAllele": "G",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.3890G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg1297Ile",
        "hgvsWellDefined": "NP_612114.2:p.Arg1297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848563",
      "coordinates": [
        {
          "allele": "T",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.4004G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg1335Ile",
        "hgvsWellDefined": "NP_000480.3:p.Arg1335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4004G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4004G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg1335Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg1335Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249730",
      "coordinates": [
        {
          "allele": "T",
          "end": 4105,
          "referenceAllele": "G",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.3890G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg1297Ile",
        "hgvsWellDefined": "NP_612114.2:p.Arg1297Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}