{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825479682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1284,
          "referenceAllele": "P",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010590",
      "geneNCBI_id": 6328,
      "geneSymbol": "SCN3A",
      "hgvs": [
        "NP_001075145.1:p.Pro1284Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16604006",
          "hgvs": "NM_001081676.2:c.3851C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150822"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=366028[alleleid]",
        "alleleId": 366028,
        "preferredName": "NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379838",
        "RCV": [
          "RCV000420271",
          "RCV000625713",
          "RCV003992291"
        ],
        "variationId": 379838
      }
    ]
  },
  "type": "amino-acid"
}