{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645425561",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 148,
          "referenceAllele": "I",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018590",
      "geneNCBI_id": 80339,
      "geneSymbol": "PNPLA3",
      "hgvs": [
        "NP_079501.2:p.Ile148Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10277926",
          "hgvs": "NM_025225.3:c.444C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=352627[alleleid]",
        "alleleId": 352627,
        "preferredName": "NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341932",
        "RCV": [
          "RCV000825505",
          "RCV001539494",
          "RCV004555861"
        ],
        "variationId": 341932
      }
    ]
  },
  "type": "amino-acid"
}