{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825492245",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 146,
          "referenceAllele": "V",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_001092875.1:p.Val146Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018183",
          "hgvs": "NM_001099405.2:c.436G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151216"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78779[alleleid]",
        "alleleId": 78779,
        "preferredName": "NM_000335.5(SCN5A):c.436G>A (p.Val146Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67886",
        "RCV": [
          "RCV000058666",
          "RCV000987241",
          "RCV001705713",
          "RCV001842362",
          "RCV002326781"
        ],
        "variationId": 67886
      }
    ]
  },
  "type": "amino-acid"
}