{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA247990",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5977571",
        "active": true,
        "id": "COSM5977571"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5977572",
        "active": true,
        "id": "COSM5977572"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196185[alleleid]",
        "alleleId": 196185,
        "preferredName": "NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199025",
        "RCV": [
          "RCV000180508",
          "RCV000723983",
          "RCV001085725"
        ],
        "variationId": 199025
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76938880-T-C",
        "id": "X-76938880-T-C",
        "variant": "X:76938880 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76938880T>C?assembly=hg19",
        "id": "chrX:g.76938880T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77683388T>C?assembly=hg38",
        "id": "chrX:g.77683388T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145678415",
        "rs": 145678415
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76938880-T-C?dataset=gnomad_r2_1",
        "id": "X-76938880-T-C",
        "variant": "X:76938880 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77683388-T-C?dataset=gnomad_r3",
        "id": "X-77683388-T-C",
        "variant": "X:77683388 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77683388-T-C?dataset=gnomad_r4",
        "id": "X-77683388-T-C",
        "variant": "X:77683388 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77683388,
          "referenceAllele": "T",
          "start": 77683387
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77683388T>C",
        "CM000685.2:g.77683388T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76938880,
          "referenceAllele": "T",
          "start": 76938879
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76938880T>C",
        "CM000685.1:g.76938880T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76825536,
          "referenceAllele": "T",
          "start": 76825535
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76825536T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107834,
          "referenceAllele": "A",
          "start": 107833
        }
      ],
      "hgvs": [
        "NG_008838.2:g.107834A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107882,
          "referenceAllele": "A",
          "start": 107881
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107882A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "referenceAllele": "A",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Lys623Arg",
        "hgvsWellDefined": "ENSP00000362441.4:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1868A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1868A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Lys623Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Lys623Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "A",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Lys623Arg",
        "hgvsWellDefined": "ENSP00000362441.4:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "A",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.1754A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Lys585Arg",
        "hgvsWellDefined": "ENSP00000378967.3:p.Lys585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2206,
          "referenceAllele": "A",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*1496A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*1496A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1988,
          "referenceAllele": "A",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1781A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Lys594Arg",
        "hgvsWellDefined": "ENSP00000485253.1:p.Lys594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "referenceAllele": "A",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.1664A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Lys555Arg",
        "hgvsWellDefined": "ENSP00000485103.1:p.Lys555Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247991",
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "A",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys623Arg",
        "hgvsWellDefined": "NP_000480.3:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249103",
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "A",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.1754A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys585Arg",
        "hgvsWellDefined": "NP_612114.2:p.Lys585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2133,
          "referenceAllele": "A",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1865A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Lys622Arg",
        "hgvsWellDefined": "XP_005262210.2:p.Lys622Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2049,
          "referenceAllele": "A",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1781A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Lys594Arg",
        "hgvsWellDefined": "XP_005262211.2:p.Lys594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "A",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.1751A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Lys584Arg",
        "hgvsWellDefined": "XP_005262212.2:p.Lys584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "referenceAllele": "A",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.1703A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Lys568Arg",
        "hgvsWellDefined": "XP_005262213.2:p.Lys568Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "A",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.1664A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Lys555Arg",
        "hgvsWellDefined": "XP_005262214.2:p.Lys555Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2019,
          "referenceAllele": "A",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.1751A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Lys584Arg",
        "hgvsWellDefined": "XP_006724729.1:p.Lys584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "A",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.1589A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Lys530Arg",
        "hgvsWellDefined": "XP_006724730.1:p.Lys530Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "A",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Lys623Arg",
        "hgvsWellDefined": "XP_006724731.1:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "A",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.2136A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247991",
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "referenceAllele": "A",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys623Arg",
        "hgvsWellDefined": "NP_000480.3:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2080,
          "referenceAllele": "A",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1865A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Lys622Arg",
        "hgvsWellDefined": "XP_005262210.2:p.Lys622Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1781A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Lys594Arg",
        "hgvsWellDefined": "XP_005262211.2:p.Lys594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "A",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.1751A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Lys584Arg",
        "hgvsWellDefined": "XP_005262212.2:p.Lys584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1989,
          "referenceAllele": "A",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.1703A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Lys568Arg",
        "hgvsWellDefined": "XP_005262213.2:p.Lys568Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "A",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.1664A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Lys555Arg",
        "hgvsWellDefined": "XP_005262214.2:p.Lys555Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1976,
          "referenceAllele": "A",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.1751A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Lys584Arg",
        "hgvsWellDefined": "XP_006724729.1:p.Lys584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.1589A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Lys530Arg",
        "hgvsWellDefined": "XP_006724730.1:p.Lys530Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2093,
          "referenceAllele": "A",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Lys623Arg",
        "hgvsWellDefined": "XP_006724731.1:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "A",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1778A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Lys593Arg",
        "hgvsWellDefined": "XP_016885090.1:p.Lys593Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "A",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Lys583Arg",
        "hgvsWellDefined": "XP_016885091.1:p.Lys583Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.1700A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Lys567Arg",
        "hgvsWellDefined": "XP_016885092.1:p.Lys567Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1892,
          "referenceAllele": "A",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.1667A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Lys556Arg",
        "hgvsWellDefined": "XP_016885093.1:p.Lys556Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2150,
          "referenceAllele": "A",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.1664A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Lys555Arg",
        "hgvsWellDefined": "XP_016885094.1:p.Lys555Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.1637A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Lys546Arg",
        "hgvsWellDefined": "XP_016885095.1:p.Lys546Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.1634A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Lys545Arg",
        "hgvsWellDefined": "XP_016885096.1:p.Lys545Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1794,
          "referenceAllele": "A",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.1586A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Lys529Arg",
        "hgvsWellDefined": "XP_016885097.1:p.Lys529Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2036,
          "referenceAllele": "A",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.1550A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Lys517Arg",
        "hgvsWellDefined": "XP_016885098.1:p.Lys517Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "referenceAllele": "A",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.1547A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Lys516Arg",
        "hgvsWellDefined": "XP_016885099.1:p.Lys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "referenceAllele": "A",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.1502A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Lys501Arg",
        "hgvsWellDefined": "XP_016885100.1:p.Lys501Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2093,
          "referenceAllele": "A",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.2093A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249103",
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "A",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.1754A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys585Arg",
        "hgvsWellDefined": "NP_612114.2:p.Lys585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247991",
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "referenceAllele": "A",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1868A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys623Arg",
        "hgvsWellDefined": "NP_000480.3:p.Lys623Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1868A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1868A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Lys623Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Lys623Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249103",
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "A",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.1754A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys585Arg",
        "hgvsWellDefined": "NP_612114.2:p.Lys585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}