{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645449133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NP_055006.1:p.Thr668Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6571404",
          "hgvs": "NM_014191.4:c.2003C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247730[alleleid]",
        "alleleId": 247730,
        "preferredName": "NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253283",
        "RCV": [
          "RCV000239754",
          "RCV001218534"
        ],
        "variationId": 253283
      }
    ]
  },
  "type": "amino-acid"
}