{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645495566",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1297,
          "referenceAllele": "P",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NP_006693.3:p.Pro1297Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9140664",
          "hgvs": "NM_006702.5:c.3889C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172227"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404148[alleleid]",
        "alleleId": 404148,
        "preferredName": "NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409994",
        "RCV": [
          "RCV000470003",
          "RCV002293441",
          "RCV001535779"
        ],
        "variationId": 409994
      }
    ]
  },
  "type": "amino-acid"
}