{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827405812",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 273,
          "referenceAllele": "S",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NP_001334652.1:p.Ser273Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320483570",
          "hgvs": "NM_001347723.2:c.818C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660357"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2824746[alleleid]",
        "alleleId": 2824746,
        "preferredName": "NM_001347721.2(DYRK1A):c.905C>A (p.Ser302Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2652660",
        "RCV": [
          "RCV003440562"
        ],
        "variationId": 2652660
      }
    ]
  },
  "type": "amino-acid"
}