{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139710319",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 793,
          "referenceAllele": "T",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015853",
      "geneNCBI_id": 10564,
      "geneSymbol": "ARFGEF2",
      "hgvs": [
        "NP_006411.2:p.Thr793Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9898631",
          "hgvs": "NM_006420.3:c.2378C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171971"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971490[alleleid]",
        "alleleId": 971490,
        "preferredName": "NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983404",
        "RCV": [
          "RCV001263382",
          "RCV002537654"
        ],
        "variationId": 983404
      }
    ]
  },
  "type": "amino-acid"
}