{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829483472",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1016,
          "referenceAllele": "R",
          "start": 1015
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      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_003997.2:p.Arg1016Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10379368",
          "hgvs": "NM_004006.3:c.3046C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=379354[alleleid]",
        "alleleId": 379354,
        "preferredName": "NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/386096",
        "RCV": [
          "RCV000429074",
          "RCV001861563",
          "RCV001833544",
          "RCV003437189"
        ],
        "variationId": 386096
      }
    ]
  },
  "type": "amino-acid"
}