{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573248434",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "R",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002916",
      "geneNCBI_id": 1747,
      "geneSymbol": "DLX3",
      "hgvs": [
        "NP_005211.1:p.Arg228Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8640966",
          "hgvs": "NM_005220.3:c.682C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170868"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1342454[alleleid]",
        "alleleId": 1342454,
        "preferredName": "NM_005220.3(DLX3):c.682C>T (p.Arg228Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1464098",
        "RCV": [
          "RCV001956803",
          "RCV002564444"
        ],
        "variationId": 1464098
      }
    ]
  },
  "type": "amino-acid"
}