{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830522370",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006601",
      "geneNCBI_id": 3981,
      "geneSymbol": "LIG4",
      "hgvs": [
        "NP_996820.1:p.Gly469Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118978",
          "hgvs": "NM_206937.2:c.1406G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185853"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22713[alleleid]",
        "alleleId": 22713,
        "preferredName": "NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7674",
        "RCV": [
          "RCV000008113"
        ],
        "variationId": 7674
      }
    ]
  },
  "type": "amino-acid"
}