{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA236808",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1738,
          "referenceAllele": "S",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001092874.1:p.Ser1738Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018989",
          "hgvs": "NM_001099404.2:c.5213C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189212[alleleid]",
        "alleleId": 189212,
        "preferredName": "NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191499",
        "RCV": [
          "RCV000171697",
          "RCV000855502",
          "RCV001842522"
        ],
        "variationId": 191499
      }
    ]
  },
  "type": "amino-acid"
}