{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829495496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 543,
          "referenceAllele": "S",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004001.1:p.Ser543Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285538",
          "hgvs": "NM_004010.3:c.1628C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100387[alleleid]",
        "alleleId": 100387,
        "preferredName": "NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94487",
        "RCV": [
          "RCV000080474",
          "RCV000250691",
          "RCV000711450",
          "RCV000853044",
          "RCV001084848",
          "RCV001826731",
          "RCV001165928"
        ],
        "variationId": 94487
      }
    ]
  },
  "type": "amino-acid"
}