{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916068486",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 984,
          "referenceAllele": "R",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_612114.2:p.Arg984Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248000",
          "hgvs": "NM_138270.5:c.2951G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196190[alleleid]",
        "alleleId": 196190,
        "preferredName": "NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199030",
        "RCV": [
          "RCV000180513",
          "RCV001510596",
          "RCV002444721"
        ],
        "variationId": 199030
      }
    ]
  },
  "type": "amino-acid"
}