{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827766933",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "S",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340879.1:p.Ser1460Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349049351",
          "hgvs": "NM_001353950.2:c.4379C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2524182[alleleid]",
        "alleleId": 2524182,
        "preferredName": "NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501293",
        "RCV": [
          "RCV003226889",
          "RCV003235813"
        ],
        "variationId": 2501293
      }
    ]
  },
  "type": "amino-acid"
}