{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916058352",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 180,
          "referenceAllele": "RV",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NP_569122.1:p.Arg179_Val180del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620998",
          "hgvs": "NM_130438.2:c.535_540del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410860[alleleid]",
        "alleleId": 410860,
        "preferredName": "NM_001347721.2(DYRK1A):c.508_513del (p.Arg170_Val171del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422108",
        "RCV": [
          "RCV000478619"
        ],
        "variationId": 422108
      }
    ]
  },
  "type": "amino-acid"
}