{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827921216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34,
          "referenceAllele": "R",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001341630.1:p.Arg34Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014158",
          "hgvs": "NM_001354701.2:c.100C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57443[alleleid]",
        "alleleId": 57443,
        "preferredName": "NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48279",
        "RCV": [
          "RCV000041594",
          "RCV000058380",
          "RCV000244721",
          "RCV000277696",
          "RCV000263131",
          "RCV000318270",
          "RCV000357684",
          "RCV000372880",
          "RCV001094908",
          "RCV001841583"
        ],
        "variationId": 48279
      }
    ]
  },
  "type": "amino-acid"
}