{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825234156",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "referenceAllele": "R",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034430",
      "geneNCBI_id": 389337,
      "geneSymbol": "ARHGEF37",
      "hgvs": [
        "NP_001001669.2:p.Arg216Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3502766",
          "hgvs": "NM_001001669.3:c.646C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3279514[alleleid]",
        "alleleId": 3279514,
        "preferredName": "NM_001001669.3(ARHGEF37):c.646C>T (p.Arg216Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3129300",
        "RCV": [
          "RCV004425166"
        ],
        "variationId": 3129300
      }
    ]
  },
  "type": "amino-acid"
}