{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139693649",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "V",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NP_001159583.1:p.Val1215Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA403135483",
          "hgvs": "NM_001166111.2:c.3644T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155263"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=848150[alleleid]",
        "alleleId": 848150,
        "preferredName": "NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/846399",
        "RCV": [
          "RCV001049696"
        ],
        "variationId": 846399
      }
    ]
  },
  "type": "amino-acid"
}