{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827874179",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 139,
          "referenceAllele": "A",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NP_001341475.1:p.Ala139Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA267785992",
          "hgvs": "NM_001354546.2:c.415G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647858"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=842086[alleleid]",
        "alleleId": 842086,
        "preferredName": "NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/850340",
        "RCV": [
          "RCV001054488",
          "RCV001585954"
        ],
        "variationId": 850340
      }
    ]
  },
  "type": "amino-acid"
}