{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA317374",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28,
          "referenceAllele": "R",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_008851.3:p.Arg28Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA317371",
          "hgvs": "NM_006920.6:c.82C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172428"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201638[alleleid]",
        "alleleId": 201638,
        "preferredName": "NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206802",
        "RCV": [
          "RCV000188919",
          "RCV001241778",
          "RCV002225093",
          "RCV002485282"
        ],
        "variationId": 206802
      }
    ]
  },
  "type": "amino-acid"
}