{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916072779",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 244,
          "referenceAllele": "P",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NP_064608.2:p.Pro244Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4108976",
          "hgvs": "NM_020223.4:c.731C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176804"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=722445[alleleid]",
        "alleleId": 722445,
        "preferredName": "NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/720953",
        "RCV": [
          "RCV000894361",
          "RCV002501492"
        ],
        "variationId": 720953
      }
    ]
  },
  "type": "amino-acid"
}