{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA135702",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 42,
          "referenceAllele": "",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001541",
      "geneNCBI_id": 867,
      "geneSymbol": "CBL",
      "hgvs": [
        "NP_005179.2:p.His42dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA135700",
          "hgvs": "NM_005188.3:c.125_127dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170840"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48870[alleleid]",
        "alleleId": 48870,
        "preferredName": "NM_005188.4(CBL):c.107ACC[8] (p.His42dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40400",
        "RCV": [
          "RCV000038350",
          "RCV000278774",
          "RCV000514229",
          "RCV001080766",
          "RCV002408491",
          "RCV001813226",
          "RCV002490443",
          "RCV004532481"
        ],
        "variationId": 40400
      }
    ]
  },
  "type": "amino-acid"
}