{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829505315",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 380,
          "referenceAllele": "A",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004005.2:p.Ala380Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10377830",
          "hgvs": "NM_004014.3:c.1138G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243792[alleleid]",
        "alleleId": 243792,
        "preferredName": "NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239613",
        "RCV": [
          "RCV000382296",
          "RCV001086428",
          "RCV001828114",
          "RCV002372274"
        ],
        "variationId": 239613
      }
    ]
  },
  "type": "amino-acid"
}