{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825896616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 120,
          "referenceAllele": "P",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NP_001139133.1:p.Pro120Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2600038",
          "hgvs": "NM_001145661.2:c.358C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154191"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=630933[alleleid]",
        "alleleId": 630933,
        "preferredName": "NM_032638.5(GATA2):c.358C>T (p.Pro120Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/647811",
        "RCV": [
          "RCV000802400",
          "RCV001816864",
          "RCV002256521"
        ],
        "variationId": 647811
      }
    ]
  },
  "type": "amino-acid"
}