{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NP_000368.1:p.Gly407Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10404054",
          "hgvs": "NM_000377.3:c.1219G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412873524",
          "hgvs": "NM_000377.3:c.1219G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951815[alleleid]",
        "alleleId": 951815,
        "preferredName": "NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3873719[alleleid]",
        "alleleId": 3873719,
        "preferredName": "NM_000377.3(WAS):c.1219G>C (p.Gly407Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/958225",
        "RCV": [
          "RCV001231346"
        ],
        "variationId": 958225
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3760540",
        "RCV": [
          "RCV005226546"
        ],
        "variationId": 3760540
      }
    ]
  },
  "type": "amino-acid"
}