{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830526450",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "NP_996999.1:p.Gly399Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203830",
          "hgvs": "NM_207116.3:c.1196G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185908"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196432[alleleid]",
        "alleleId": 196432,
        "preferredName": "NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199654",
        "RCV": [
          "RCV000180793"
        ],
        "variationId": 199654
      }
    ]
  },
  "type": "amino-acid"
}