{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829492984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2481,
          "referenceAllele": "W",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004000.1:p.Trp2481Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10378272",
          "hgvs": "NM_004009.3:c.7443G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412658894",
          "hgvs": "NM_004009.3:c.7443G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=589440[alleleid]",
        "alleleId": 589440,
        "preferredName": "NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/598379",
        "RCV": [
          "RCV000734758",
          "RCV000807737",
          "RCV001825485"
        ],
        "variationId": 598379
      }
    ]
  },
  "type": "amino-acid"
}