{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057721537",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 185,
          "referenceAllele": "A",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_932173.1:p.Ala185Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352153769",
          "hgvs": "NM_198056.3:c.554C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4010326[alleleid]",
        "alleleId": 4010326,
        "preferredName": "NM_000335.5(SCN5A):c.554C>A (p.Ala185Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3894446",
        "RCV": [
          "RCV005403627"
        ],
        "variationId": 3894446
      }
    ]
  },
  "type": "amino-acid"
}