{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916036792",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 620,
          "referenceAllele": "W",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340890.1:p.Trp620Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285165",
          "hgvs": "NM_001353961.2:c.1858T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349049615",
          "hgvs": "NM_001353961.2:c.1858T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79523[alleleid]",
        "alleleId": 79523,
        "preferredName": "NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015869[alleleid]",
        "alleleId": 1015869,
        "preferredName": "NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68631",
        "RCV": [
          "RCV000059510",
          "RCV001091662",
          "RCV001253411",
          "RCV001854245"
        ],
        "variationId": 68631
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027787",
        "RCV": [
          "RCV001328668",
          "RCV001507578"
        ],
        "variationId": 1027787
      }
    ]
  },
  "type": "amino-acid"
}