{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828323017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NP_001356301.1:p.Thr230Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172054",
          "hgvs": "NM_001369372.1:c.688A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169860[alleleid]",
        "alleleId": 169860,
        "preferredName": "NM_001195553.2(DCX):c.688A>C (p.Thr230Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158500",
        "RCV": [
          "RCV000145884"
        ],
        "variationId": 158500
      }
    ]
  },
  "type": "amino-acid"
}