{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829501053",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2213,
          "referenceAllele": "R",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004002.3:p.Arg2213Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10377549",
          "hgvs": "NM_004011.4:c.6638G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709517"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=959238[alleleid]",
        "alleleId": 959238,
        "preferredName": "NM_004006.3(DMD):c.10661G>A (p.Arg3554Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/966456",
        "RCV": [
          "RCV001241137",
          "RCV001828968"
        ],
        "variationId": 966456
      }
    ]
  },
  "type": "amino-acid"
}