{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827864852",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 37,
          "referenceAllele": "F",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NP_001341438.1:p.Phe37Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391356475",
          "hgvs": "NM_001354509.2:c.111T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391356476",
          "hgvs": "NM_001354509.2:c.111T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391356481",
          "hgvs": "NM_001354509.2:c.109T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647844"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1394828[alleleid]",
        "alleleId": 1394828,
        "preferredName": "NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1377213",
        "RCV": [
          "RCV001912187"
        ],
        "variationId": 1377213
      }
    ]
  },
  "type": "amino-acid"
}