{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA517374368",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2888241[alleleid]",
        "alleleId": 2888241,
        "preferredName": "NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2723015",
        "RCV": [
          "RCV003513319"
        ],
        "variationId": 2723015
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76776278T>C?assembly=hg19",
        "id": "chrX:g.76776278T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2063205105",
        "rs": 2063205105
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77520800,
          "referenceAllele": "T",
          "start": 77520799
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77520800T>C",
        "CM000685.2:g.77520800T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76776278,
          "referenceAllele": "T",
          "start": 76776277
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76776278T>C",
        "CM000685.1:g.76776278T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76662934,
          "referenceAllele": "T",
          "start": 76662933
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76662934T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270422,
          "referenceAllele": "A",
          "start": 270421
        }
      ],
      "hgvs": [
        "NG_008838.2:g.270422A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270470,
          "referenceAllele": "A",
          "start": 270469
        }
      ],
      "hgvs": [
        "NG_008838.3:g.270470A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7403,
          "referenceAllele": "A",
          "start": 7402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.7188A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Thr2396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7188A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7188A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Thr2396="
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Thr2396="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2918,
          "referenceAllele": "A",
          "start": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.2286A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Thr762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7456,
          "referenceAllele": "A",
          "start": 7455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.7188A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Thr2396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7289,
          "referenceAllele": "A",
          "start": 7288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.7074A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Thr2358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7526,
          "referenceAllele": "A",
          "start": 7525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*6816A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*6816A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5508,
          "referenceAllele": "A",
          "start": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.5508A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "A",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624766.1:n.419A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191798",
      "coordinates": [
        {
          "allele": "G",
          "end": 7456,
          "referenceAllele": "A",
          "start": 7455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.7188A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Thr2396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250282",
      "coordinates": [
        {
          "allele": "G",
          "end": 7342,
          "referenceAllele": "A",
          "start": 7341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.7074A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Thr2358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7453,
          "referenceAllele": "A",
          "start": 7452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.7185A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Thr2395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7369,
          "referenceAllele": "A",
          "start": 7368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.7101A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7557,
          "referenceAllele": "A",
          "start": 7556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.7071A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Thr2357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7294,
          "referenceAllele": "A",
          "start": 7293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.7023A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Thr2341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7252,
          "referenceAllele": "A",
          "start": 7251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.6984A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Thr2328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7339,
          "referenceAllele": "A",
          "start": 7338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.7071A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Thr2357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7177,
          "referenceAllele": "A",
          "start": 7176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.6909A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Thr2303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8780,
          "referenceAllele": "A",
          "start": 8779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.8780A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191798",
      "coordinates": [
        {
          "allele": "G",
          "end": 7403,
          "referenceAllele": "A",
          "start": 7402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.7188A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Thr2396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7400,
          "referenceAllele": "A",
          "start": 7399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.7185A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Thr2395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7326,
          "referenceAllele": "A",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.7101A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7557,
          "referenceAllele": "A",
          "start": 7556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.7071A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Thr2357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7309,
          "referenceAllele": "A",
          "start": 7308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.7023A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Thr2341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7209,
          "referenceAllele": "A",
          "start": 7208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.6984A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Thr2328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7296,
          "referenceAllele": "A",
          "start": 7295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.7071A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Thr2357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7195,
          "referenceAllele": "A",
          "start": 7194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.6909A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Thr2303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7323,
          "referenceAllele": "A",
          "start": 7322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.7098A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Thr2366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7537,
          "referenceAllele": "A",
          "start": 7536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.7068A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Thr2356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7306,
          "referenceAllele": "A",
          "start": 7305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.7020A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Thr2340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7212,
          "referenceAllele": "A",
          "start": 7211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.6987A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Thr2329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7470,
          "referenceAllele": "A",
          "start": 7469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.6984A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Thr2328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7430,
          "referenceAllele": "A",
          "start": 7429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.6957A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Thr2319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7423,
          "referenceAllele": "A",
          "start": 7422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.6954A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Thr2318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7114,
          "referenceAllele": "A",
          "start": 7113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.6906A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Thr2302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7356,
          "referenceAllele": "A",
          "start": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.6870A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Thr2290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7353,
          "referenceAllele": "A",
          "start": 7352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.6867A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Thr2289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7108,
          "referenceAllele": "A",
          "start": 7107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.6822A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Thr2274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7487,
          "referenceAllele": "A",
          "start": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.7487A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250282",
      "coordinates": [
        {
          "allele": "G",
          "end": 7289,
          "referenceAllele": "A",
          "start": 7288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.7074A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Thr2358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191798",
      "coordinates": [
        {
          "allele": "G",
          "end": 7403,
          "referenceAllele": "A",
          "start": 7402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.7188A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Thr2396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7188A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7188A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Thr2396="
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Thr2396="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250282",
      "coordinates": [
        {
          "allele": "G",
          "end": 7289,
          "referenceAllele": "A",
          "start": 7288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.7074A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Thr2358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}