{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830249410",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 890,
          "referenceAllele": "E",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_612114.2:p.Glu890Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247992",
          "hgvs": "NM_138270.5:c.2668G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196186[alleleid]",
        "alleleId": 196186,
        "preferredName": "NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199026",
        "RCV": [
          "RCV001241409",
          "RCV002485181",
          "RCV000180509",
          "RCV002433783"
        ],
        "variationId": 199026
      }
    ]
  },
  "type": "amino-acid"
}