{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829490156",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 784,
          "referenceAllele": "V",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004000.1:p.Val784Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10379548",
          "hgvs": "NM_004009.3:c.2350G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412673586",
          "hgvs": "NM_004009.3:c.2350G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=446631[alleleid]",
        "alleleId": 446631,
        "preferredName": "NM_004006.3(DMD):c.2362G>T (p.Val788Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450763",
        "RCV": [
          "RCV000520240",
          "RCV000799719",
          "RCV001829499",
          "RCV002456009"
        ],
        "variationId": 450763
      }
    ]
  },
  "type": "amino-acid"
}