{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 997,
          "referenceAllele": "A",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_000326.2:p.Ala997Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016718",
          "hgvs": "NM_000335.5:c.2989G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24427[alleleid]",
        "alleleId": 24427,
        "preferredName": "NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9388",
        "RCV": [
          "RCV000009986",
          "RCV000058542",
          "RCV000183020",
          "RCV002504775",
          "RCV004532320",
          "RCV003591626"
        ],
        "variationId": 9388
      }
    ]
  },
  "type": "amino-acid"
}