{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829482298",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 185,
          "referenceAllele": "S",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_003997.2:p.Ser185Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412673954",
          "hgvs": "NM_004006.3:c.554G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=508559[alleleid]",
        "alleleId": 508559,
        "preferredName": "NM_004006.3(DMD):c.554G>A (p.Ser185Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/516955",
        "RCV": [
          "RCV000602873",
          "RCV002531670",
          "RCV001834948",
          "RCV002343164"
        ],
        "variationId": 516955
      }
    ]
  },
  "type": "amino-acid"
}