{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102054",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 205,
          "referenceAllele": "V",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NP_002040.1:p.Val205Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121062",
          "hgvs": "NM_002049.4:c.613G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25462[alleleid]",
        "alleleId": 25462,
        "preferredName": "NM_002049.4(GATA1):c.613G>A (p.Val205Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10423",
        "RCV": [
          "RCV000011168",
          "RCV000144255"
        ],
        "variationId": 10423
      }
    ]
  },
  "type": "amino-acid"
}