{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580118750",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 423,
          "referenceAllele": "V",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_000480.3:p.Val423Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA331569056",
          "hgvs": "NM_000489.5:c.1267G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147024"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1918321[alleleid]",
        "alleleId": 1918321,
        "preferredName": "NM_000489.6(ATRX):c.1267G>A (p.Val423Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2188277",
        "RCV": [
          "RCV002623748"
        ],
        "variationId": 2188277
      }
    ]
  },
  "type": "amino-acid"
}