{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828475490",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1211,
          "referenceAllele": "E",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010588",
      "geneNCBI_id": 6326,
      "geneSymbol": "SCN2A",
      "hgvs": [
        "NP_001358176.1:p.Glu1211Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128708",
          "hgvs": "NM_001371247.1:c.3631G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38841[alleleid]",
        "alleleId": 38841,
        "preferredName": "NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29886",
        "RCV": [
          "RCV000189138",
          "RCV000118248",
          "RCV000022767",
          "RCV000806278",
          "RCV001847619",
          "RCV002319425"
        ],
        "variationId": 29886
      }
    ]
  },
  "type": "amino-acid"
}