{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830368210",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 519,
          "referenceAllele": "T",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014198",
      "geneNCBI_id": 60528,
      "geneSymbol": "ELAC2",
      "hgvs": [
        "NP_776065.1:p.Thr519Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144833",
          "hgvs": "NM_173717.2:c.1556C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76941[alleleid]",
        "alleleId": 76941,
        "preferredName": "NM_018127.7(ELAC2):c.1559C>T (p.Thr520Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66035",
        "RCV": [
          "RCV000056274"
        ],
        "variationId": 66035
      }
    ]
  },
  "type": "amino-acid"
}