{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828182429",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 7,
          "referenceAllele": "E",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NP_001352579.1:p.Glu7Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117425",
          "hgvs": "NM_001365650.1:c.19G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20390[alleleid]",
        "alleleId": 20390,
        "preferredName": "NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5351",
        "RCV": [
          "RCV000005680",
          "RCV001422922"
        ],
        "variationId": 5351
      }
    ]
  },
  "type": "amino-acid"
}