{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829501902",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004003.2:p.Cys548Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA308400",
          "hgvs": "NM_004012.4:c.1643G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709515"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198575[alleleid]",
        "alleleId": 198575,
        "preferredName": "NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201751",
        "RCV": [
          "RCV000183416",
          "RCV000694678",
          "RCV001273863",
          "RCV002345641"
        ],
        "variationId": 201751
      }
    ]
  },
  "type": "amino-acid"
}