{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825899058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 140,
          "referenceAllele": "S",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "NP_001139189.2:p.Ser140Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3777677",
          "hgvs": "NM_001145717.1:c.418T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2695206234",
          "hgvs": "NM_001145717.1:c.417_418delinsTC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154211"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361957[alleleid]",
        "alleleId": 361957,
        "preferredName": "NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375256",
        "RCV": [
          "RCV000504558",
          "RCV000845143",
          "RCV003324746"
        ],
        "variationId": 375256
      }
    ]
  },
  "type": "amino-acid"
}