{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139699678",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 230,
          "referenceAllele": "D",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000678",
      "geneNCBI_id": 396,
      "geneSymbol": "ARHGDIA",
      "hgvs": [
        "NP_001288172.1:p.Asp230del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143755",
          "hgvs": "NM_001301243.2:c.688_690del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165642"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59540[alleleid]",
        "alleleId": 59540,
        "preferredName": "NM_004309.6(ARHGDIA):c.547GAC[2] (p.Asp185del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50501",
        "RCV": [
          "RCV000043532"
        ],
        "variationId": 50501
      }
    ]
  },
  "type": "amino-acid"
}