{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830249522",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_612114.2:p.Gly1033Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10457983",
          "hgvs": "NM_138270.5:c.3097G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413707325",
          "hgvs": "NM_138270.5:c.3097G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=471050[alleleid]",
        "alleleId": 471050,
        "preferredName": "NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/465052",
        "RCV": [
          "RCV000535770",
          "RCV002316547",
          "RCV000764880",
          "RCV004541698"
        ],
        "variationId": 465052
      }
    ]
  },
  "type": "amino-acid"
}