{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828151123",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "E",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NP_001351528.1:p.Glu590Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128856",
          "hgvs": "NM_001364599.1:c.1769A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38995[alleleid]",
        "alleleId": 38995,
        "preferredName": "NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30040",
        "RCV": [
          "RCV000022940"
        ],
        "variationId": 30040
      }
    ]
  },
  "type": "amino-acid"
}