{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580267035",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 113,
          "referenceAllele": "R",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NP_002040.1:p.Arg113His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10404590",
          "hgvs": "NM_002049.4:c.338G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2096964[alleleid]",
        "alleleId": 2096964,
        "preferredName": "NM_002049.4(GATA1):c.338G>A (p.Arg113His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2033904",
        "RCV": [
          "RCV003326641",
          "RCV002885313"
        ],
        "variationId": 2033904
      }
    ]
  },
  "type": "amino-acid"
}