{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102371",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 45,
          "referenceAllele": "T",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NP_000368.1:p.Thr45Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA255728",
          "hgvs": "NM_000377.3:c.134C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26162[alleleid]",
        "alleleId": 26162,
        "preferredName": "NM_000377.3(WAS):c.134C>T (p.Thr45Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11123",
        "RCV": [
          "RCV000011872",
          "RCV000851684",
          "RCV001037597",
          "RCV001172206"
        ],
        "variationId": 11123
      }
    ]
  },
  "type": "amino-acid"
}