{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573083679",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 488,
          "referenceAllele": "R",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_003997.2:p.Arg488Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239844",
          "hgvs": "NM_004006.3:c.1463G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191216[alleleid]",
        "alleleId": 191216,
        "preferredName": "NM_004006.3(DMD):c.1463G>T (p.Arg488Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194053",
        "RCV": [
          "RCV000174328",
          "RCV001852123"
        ],
        "variationId": 194053
      }
    ]
  },
  "type": "amino-acid"
}