{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825943097",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 84,
          "referenceAllele": "D",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001153633.1:p.Asp84Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016221",
          "hgvs": "NM_001160161.2:c.250G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154603"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78631[alleleid]",
        "alleleId": 78631,
        "preferredName": "NM_000335.5(SCN5A):c.250G>A (p.Asp84Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67736",
        "RCV": [
          "RCV000058505",
          "RCV003556149"
        ],
        "variationId": 67736
      }
    ]
  },
  "type": "amino-acid"
}