{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828494268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 111,
          "referenceAllele": "E",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NP_001361203.1:p.Glu111Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA212671",
          "hgvs": "NM_001374274.1:c.331G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710441"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39056[alleleid]",
        "alleleId": 39056,
        "preferredName": "NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30101",
        "RCV": [
          "RCV000023006",
          "RCV001852005",
          "RCV003991570"
        ],
        "variationId": 30101
      }
    ]
  },
  "type": "amino-acid"
}