{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA143015",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 558,
          "referenceAllele": "H",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001092874.1:p.His558Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA015145",
          "hgvs": "NM_001099404.2:c.1673A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38447[alleleid]",
        "alleleId": 38447,
        "preferredName": "NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48289",
        "RCV": [
          "RCV000041604",
          "RCV000058440",
          "RCV000251327",
          "RCV000300603",
          "RCV000339196",
          "RCV000304709",
          "RCV000405409",
          "RCV000361696",
          "RCV000406777",
          "RCV000987225",
          "RCV001841593",
          "RCV003125879",
          "RCV002496658"
        ],
        "variationId": 48289
      }
    ]
  },
  "type": "amino-acid"
}