{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825129734",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 680,
          "referenceAllele": "R",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_000326.2:p.Arg680Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA059629",
          "hgvs": "NM_000335.5:c.2038C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=559471[alleleid]",
        "alleleId": 559471,
        "preferredName": "NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/569341",
        "RCV": [
          "RCV001149803",
          "RCV001149805",
          "RCV001145462",
          "RCV001145463",
          "RCV001145464",
          "RCV002422490",
          "RCV002485630",
          "RCV001841857",
          "RCV000689944",
          "RCV001149804"
        ],
        "variationId": 569341
      }
    ]
  },
  "type": "amino-acid"
}