{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499260275",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 386,
          "referenceAllele": "L",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NP_002040.1:p.Leu386Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10404705",
          "hgvs": "NM_002049.4:c.1157T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159690[alleleid]",
        "alleleId": 1159690,
        "preferredName": "NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1165471",
        "RCV": [
          "RCV001512605",
          "RCV003416377"
        ],
        "variationId": 1165471
      }
    ]
  },
  "type": "amino-acid"
}