{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645399659",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2319,
          "referenceAllele": "R",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NP_060250.2:p.Arg2319Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10581478",
          "hgvs": "NM_017780.4:c.6955C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237524[alleleid]",
        "alleleId": 237524,
        "preferredName": "NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235889",
        "RCV": [
          "RCV000224986",
          "RCV001731455",
          "RCV003417801"
        ],
        "variationId": 235889
      }
    ]
  },
  "type": "amino-acid"
}