{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580252625",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 983,
          "referenceAllele": "R",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003050",
      "geneNCBI_id": 1830,
      "geneSymbol": "DSG3",
      "hgvs": [
        "NP_001935.2:p.Arg983Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8928320",
          "hgvs": "NM_001944.3:c.2948G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2208847[alleleid]",
        "alleleId": 2208847,
        "preferredName": "NM_001944.3(DSG3):c.2948G>A (p.Arg983Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2228015",
        "RCV": [
          "RCV004085227"
        ],
        "variationId": 2228015
      }
    ]
  },
  "type": "amino-acid"
}