{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916037150",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000493",
      "geneNCBI_id": 287,
      "geneSymbol": "ANK2",
      "hgvs": [
        "NP_001341171.1:p.Gly490Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145045",
          "hgvs": "NM_001354242.2:c.1468G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357930951",
          "hgvs": "NM_001354242.2:c.1468G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625666"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78500[alleleid]",
        "alleleId": 78500,
        "preferredName": "NM_001148.6(ANK2):c.1423G>A (p.Gly475Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67604",
        "RCV": [
          "RCV000058353",
          "RCV001151110",
          "RCV003162452"
        ],
        "variationId": 67604
      }
    ]
  },
  "type": "amino-acid"
}