{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102024",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 216,
          "referenceAllele": "R",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NP_002040.1:p.Arg216Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340965",
          "hgvs": "NM_002049.4:c.647G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25467[alleleid]",
        "alleleId": 25467,
        "preferredName": "NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10428",
        "RCV": [
          "RCV000011173",
          "RCV001701722",
          "RCV001382887",
          "RCV001542263",
          "RCV003137511"
        ],
        "variationId": 10428
      }
    ]
  },
  "type": "amino-acid"
}