{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA265904",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 212,
          "referenceAllele": "L",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_000326.2:p.Leu212Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019670",
          "hgvs": "NM_000335.5:c.635T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78921[alleleid]",
        "alleleId": 78921,
        "preferredName": "NM_000335.5(SCN5A):c.635T>A (p.Leu212Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68029",
        "RCV": [
          "RCV000058829",
          "RCV003541454"
        ],
        "variationId": 68029
      }
    ]
  },
  "type": "amino-acid"
}