{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221614",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1984,
          "referenceAllele": "P",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001159435.1:p.Pro1984His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221611",
          "hgvs": "NM_001165963.4:c.5951C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155211"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99565[alleleid]",
        "alleleId": 99565,
        "preferredName": "NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93661",
        "RCV": [
          "RCV000764282",
          "RCV000723619",
          "RCV001080157",
          "RCV001281471",
          "RCV002313760",
          "RCV004542757"
        ],
        "variationId": 93661
      }
    ]
  },
  "type": "amino-acid"
}