{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829490745",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1086,
          "referenceAllele": "Q",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004000.1:p.Gln1086Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA242443",
          "hgvs": "NM_004009.3:c.3257A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192979[alleleid]",
        "alleleId": 192979,
        "preferredName": "NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195818",
        "RCV": [
          "RCV000176480",
          "RCV001257067",
          "RCV001832009",
          "RCV004537401"
        ],
        "variationId": 195818
      }
    ]
  },
  "type": "amino-acid"
}