{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891848465",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "R",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_000480.3:p.Arg390Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10458228",
          "hgvs": "NM_000489.5:c.1168C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147024"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=581197[alleleid]",
        "alleleId": 581197,
        "preferredName": "NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/589005",
        "RCV": [
          "RCV000875902",
          "RCV002317949",
          "RCV004535789",
          "RCV003228984"
        ],
        "variationId": 589005
      }
    ]
  },
  "type": "amino-acid"
}