{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA078160",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 215,
          "referenceAllele": "V",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NP_001918.3:p.Val215Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA078107",
          "hgvs": "NM_001927.4:c.643G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224252[alleleid]",
        "alleleId": 224252,
        "preferredName": "NM_001927.4(DES):c.643G>A (p.Val215Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222542",
        "RCV": [
          "RCV000208223",
          "RCV000725602",
          "RCV000620253",
          "RCV000651548",
          "RCV002467674",
          "RCV003330581",
          "RCV002485357",
          "RCV003390956"
        ],
        "variationId": 222542
      }
    ]
  },
  "type": "amino-acid"
}