{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825945450",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1656,
          "referenceAllele": "S",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001153633.1:p.Ser1656Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018910",
          "hgvs": "NM_001160161.2:c.4967C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154603"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24422[alleleid]",
        "alleleId": 24422,
        "preferredName": "NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9383",
        "RCV": [
          "RCV000009981",
          "RCV000058743",
          "RCV000197520",
          "RCV000183102",
          "RCV000246596",
          "RCV001841234",
          "RCV002504774",
          "RCV004554591",
          "RCV004017232"
        ],
        "variationId": 9383
      }
    ]
  },
  "type": "amino-acid"
}