{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580210682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 73,
          "referenceAllele": "I",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NP_001308534.1:p.Ile73Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA307703640",
          "hgvs": "NM_001321605.1:c.217A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624960"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1704422[alleleid]",
        "alleleId": 1704422,
        "preferredName": "NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1706108",
        "RCV": [
          "RCV002284638",
          "RCV003509711",
          "RCV004047574"
        ],
        "variationId": 1706108
      }
    ]
  },
  "type": "amino-acid"
}