{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645426138",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 618,
          "referenceAllele": "V",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000573",
      "geneNCBI_id": 23431,
      "geneSymbol": "AP4E1",
      "hgvs": [
        "NP_031373.2:p.Val618Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7559184",
          "hgvs": "NM_007347.5:c.1852G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172780"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242086[alleleid]",
        "alleleId": 242086,
        "preferredName": "NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/240837",
        "RCV": [
          "RCV000232082",
          "RCV002293430",
          "RCV003987469"
        ],
        "variationId": 240837
      }
    ]
  },
  "type": "amino-acid"
}