{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827876747",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NP_001341480.1:p.Gly321Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043487",
          "hgvs": "NM_001354551.2:c.961G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391351616",
          "hgvs": "NM_001354551.2:c.961G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360966[alleleid]",
        "alleleId": 360966,
        "preferredName": "NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373923",
        "RCV": [
          "RCV000415459"
        ],
        "variationId": 373923
      }
    ]
  },
  "type": "amino-acid"
}