{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827760062",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340878.1:p.Cys1385Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA284943",
          "hgvs": "NM_001353949.2:c.4153T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617757"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79430[alleleid]",
        "alleleId": 79430,
        "preferredName": "NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68538",
        "RCV": [
          "RCV000059412",
          "RCV002513780"
        ],
        "variationId": 68538
      }
    ]
  },
  "type": "amino-acid"
}