{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830366943",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 77,
          "referenceAllele": "D",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "NP_775947.2:p.Asp77Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3777758",
          "hgvs": "NM_173676.2:c.229G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183505"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=672248[alleleid]",
        "alleleId": 672248,
        "preferredName": "NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/684638",
        "RCV": [
          "RCV000845144",
          "RCV001093081"
        ],
        "variationId": 684638
      }
    ]
  },
  "type": "amino-acid"
}