{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828475121",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 987,
          "referenceAllele": "S",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_001358176.1:p.Ser987Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA209995",
          "hgvs": "NM_001371247.1:c.2960G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201345[alleleid]",
        "alleleId": 201345,
        "preferredName": "NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206978",
        "RCV": [
          "RCV000189127",
          "RCV000417104",
          "RCV000195526",
          "RCV002433854"
        ],
        "variationId": 206978
      }
    ]
  },
  "type": "amino-acid"
}