{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA318320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 273,
          "referenceAllele": "F",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NP_055006.1:p.Phe273Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA318319",
          "hgvs": "NM_014191.4:c.817T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA385226587",
          "hgvs": "NM_014191.4:c.819C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA385226588",
          "hgvs": "NM_014191.4:c.819C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202718[alleleid]",
        "alleleId": 202718,
        "preferredName": "NM_001330260.2(SCN8A):c.817T>C (p.Phe273Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3532763[alleleid]",
        "alleleId": 3532763,
        "preferredName": "NM_001330260.2(SCN8A):c.819C>A (p.Phe273Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207141",
        "RCV": [
          "RCV000189299"
        ],
        "variationId": 207141
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3373574",
        "RCV": [
          "RCV004778861"
        ],
        "variationId": 3373574
      }
    ]
  },
  "type": "amino-acid"
}