{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829501229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 57,
          "referenceAllele": "V",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004003.2:p.Val57Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10379022",
          "hgvs": "NM_004012.4:c.169G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709515"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=572437[alleleid]",
        "alleleId": 572437,
        "preferredName": "NM_004006.3(DMD):c.4201G>A (p.Val1401Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567462",
        "RCV": [
          "RCV000687555",
          "RCV001830488"
        ],
        "variationId": 567462
      }
    ]
  },
  "type": "amino-acid"
}