{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826204983",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 196,
          "referenceAllele": "R",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NP_001182482.1:p.Arg196Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414246047",
          "hgvs": "NM_001195553.1:c.587G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157091"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=486506[alleleid]",
        "alleleId": 486506,
        "preferredName": "NM_001195553.2(DCX):c.587G>T (p.Arg196Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/493543",
        "RCV": [
          "RCV000585155"
        ],
        "variationId": 493543
      }
    ]
  },
  "type": "amino-acid"
}