{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105258",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 254,
          "referenceAllele": "P",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NP_001139133.1:p.Pro254Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128576",
          "hgvs": "NM_001145661.2:c.761C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154191"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38665[alleleid]",
        "alleleId": 38665,
        "preferredName": "NM_032638.5(GATA2):c.761C>T (p.Pro254Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29710",
        "RCV": [
          "RCV000022560",
          "RCV001541968"
        ],
        "variationId": 29710
      }
    ]
  },
  "type": "amino-acid"
}