{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645406947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 102,
          "referenceAllele": "R",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_066287.2:p.Arg102Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16617256",
          "hgvs": "NM_021007.3:c.305G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405340[alleleid]",
        "alleleId": 405340,
        "preferredName": "NM_001040142.2(SCN2A):c.305G>A (p.Arg102Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422127",
        "RCV": [
          "RCV000484885"
        ],
        "variationId": 422127
      }
    ]
  },
  "type": "amino-acid"
}