{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645439799",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 311,
          "referenceAllele": "S",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NP_001387.2:p.Ser311Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16608057",
          "hgvs": "NM_001396.5:c.932C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=377246[alleleid]",
        "alleleId": 377246,
        "preferredName": "NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/381574",
        "RCV": [
          "RCV000438308",
          "RCV000496117"
        ],
        "variationId": 381574
      }
    ]
  },
  "type": "amino-acid"
}