{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA307302",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 533,
          "referenceAllele": "R",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001092874.1:p.Arg533His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA015061",
          "hgvs": "NM_001099404.2:c.1598G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178523[alleleid]",
        "alleleId": 178523,
        "preferredName": "NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180512",
        "RCV": [
          "RCV000157479",
          "RCV000182980",
          "RCV000308105",
          "RCV000272892",
          "RCV000277355",
          "RCV000269424",
          "RCV000365101",
          "RCV000388106",
          "RCV000619790",
          "RCV001842500",
          "RCV002478471",
          "RCV003227681",
          "RCV003149961"
        ],
        "variationId": 180512
      }
    ]
  },
  "type": "amino-acid"
}