{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915972350",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "I",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024768",
      "geneNCBI_id": 375775,
      "geneSymbol": "PNPLA7",
      "hgvs": [
        "NP_001092007.2:p.Ile1228Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5370815",
          "hgvs": "NM_001098537.3:c.3683T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151109"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800379[alleleid]",
        "alleleId": 800379,
        "preferredName": "NM_001098537.3(PNPLA7):c.3683T>C (p.Ile1228Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812135",
        "RCV": [
          "RCV001002736"
        ],
        "variationId": 812135
      }
    ]
  },
  "type": "amino-acid"
}