{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 75,
          "referenceAllele": "V",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000685",
      "geneNCBI_id": 9459,
      "geneSymbol": "ARHGEF6",
      "hgvs": [
        "NP_001293106.1:p.Val75Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205870",
          "hgvs": "NM_001306177.2:c.223G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166483"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208879[alleleid]",
        "alleleId": 208879,
        "preferredName": "NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210253",
        "RCV": [
          "RCV000192797",
          "RCV000263759",
          "RCV000877163",
          "RCV003927762"
        ],
        "variationId": 210253
      }
    ]
  },
  "type": "amino-acid"
}