{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA303329",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_008851.3:p.Cys1730Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA303327",
          "hgvs": "NM_006920.6:c.5189G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172428"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187717[alleleid]",
        "alleleId": 187717,
        "preferredName": "NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189926",
        "RCV": [
          "RCV000180878",
          "RCV000188996",
          "RCV002516537"
        ],
        "variationId": 189926
      }
    ]
  },
  "type": "amino-acid"
}