{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111253",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 222,
          "referenceAllele": "L",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_000301.1:p.Leu222Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263538",
          "hgvs": "NM_000310.4:c.665T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70849[alleleid]",
        "alleleId": 70849,
        "preferredName": "NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56210",
        "RCV": [
          "RCV000049621",
          "RCV001192781",
          "RCV001646987"
        ],
        "variationId": 56210
      }
    ]
  },
  "type": "amino-acid"
}