{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580430996",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 247,
          "referenceAllele": "L",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004082",
      "geneNCBI_id": 2561,
      "geneSymbol": "GABRB2",
      "hgvs": [
        "NP_068711.1:p.Leu247Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA362171672",
          "hgvs": "NM_021911.3:c.740T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1863324[alleleid]",
        "alleleId": 1863324,
        "preferredName": "NM_001371727.1(GABRB2):c.740T>C (p.Leu247Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1806314",
        "RCV": [
          "RCV002470598"
        ],
        "variationId": 1806314
      }
    ]
  },
  "type": "amino-acid"
}