{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA357848",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028958",
      "geneNCBI_id": 9688,
      "geneSymbol": "NUP93",
      "hgvs": [
        "NP_055484.3:p.Gly591Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357847",
          "hgvs": "NM_014669.5:c.1772G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173893"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226845[alleleid]",
        "alleleId": 226845,
        "preferredName": "NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224964",
        "RCV": [
          "RCV000210563",
          "RCV001799635",
          "RCV001849346"
        ],
        "variationId": 224964
      }
    ]
  },
  "type": "amino-acid"
}