{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057522347",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 533,
          "referenceAllele": "R",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_932173.1:p.Arg533Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352147254",
          "hgvs": "NM_198056.3:c.1598G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3846421[alleleid]",
        "alleleId": 3846421,
        "preferredName": "NM_000335.5(SCN5A):c.1598G>T (p.Arg533Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3706935",
        "RCV": [
          "RCV005177304"
        ],
        "variationId": 3706935
      }
    ]
  },
  "type": "amino-acid"
}