{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829493670",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 3007,
          "referenceAllele": "P",
          "start": 3006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004000.1:p.Pro3007Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246864",
          "hgvs": "NM_004009.3:c.9020C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195463[alleleid]",
        "alleleId": 195463,
        "preferredName": "NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198302",
        "RCV": [
          "RCV000179580",
          "RCV000630569",
          "RCV001833090"
        ],
        "variationId": 198302
      }
    ]
  },
  "type": "amino-acid"
}