{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828473959",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 251,
          "referenceAllele": "V",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_001358176.1:p.Val251Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044306",
          "hgvs": "NM_001371247.1:c.751G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362317[alleleid]",
        "alleleId": 362317,
        "preferredName": "NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375510",
        "RCV": [
          "RCV000416970",
          "RCV001329203"
        ],
        "variationId": 375510
      }
    ]
  },
  "type": "amino-acid"
}