{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827778720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340884.1:p.Gly329Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA317771",
          "hgvs": "NM_001353955.2:c.985G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618214"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201600[alleleid]",
        "alleleId": 201600,
        "preferredName": "NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206933",
        "RCV": [
          "RCV000189077",
          "RCV001255357",
          "RCV001857651",
          "RCV001253376"
        ],
        "variationId": 206933
      }
    ]
  },
  "type": "amino-acid"
}