{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741896083",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1596,
          "referenceAllele": "V",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010594",
      "geneNCBI_id": 6332,
      "geneSymbol": "SCN7A",
      "hgvs": [
        "NP_002967.2:p.Val1596Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1944980",
          "hgvs": "NM_002976.4:c.4786G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3200073[alleleid]",
        "alleleId": 3200073,
        "preferredName": "NM_002976.4(SCN7A):c.4786G>C (p.Val1596Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3057148",
        "RCV": [
          "RCV003974062"
        ],
        "variationId": 3057148
      }
    ]
  },
  "type": "amino-acid"
}