{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827923846",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "referenceAllele": "Y",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001341630.1:p.Tyr1776Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019196",
          "hgvs": "NM_001354701.2:c.5327A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24414[alleleid]",
        "alleleId": 24414,
        "preferredName": "NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9375",
        "RCV": [
          "RCV000009969",
          "RCV000058778",
          "RCV001561910",
          "RCV002345237"
        ],
        "variationId": 9375
      }
    ]
  },
  "type": "amino-acid"
}