{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499274022",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 798,
          "referenceAllele": "D",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "NP_006412.2:p.Asp798Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371214129",
          "hgvs": "NM_006421.5:c.2392G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171972"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984032[alleleid]",
        "alleleId": 984032,
        "preferredName": "NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996312",
        "RCV": [
          "RCV001290721",
          "RCV002276680"
        ],
        "variationId": 996312
      }
    ]
  },
  "type": "amino-acid"
}