{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA243140",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 110,
          "referenceAllele": "N",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_000301.1:p.Asn110Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA243138",
          "hgvs": "NM_000310.4:c.329A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193410[alleleid]",
        "alleleId": 193410,
        "preferredName": "NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196249",
        "RCV": [
          "RCV000625813",
          "RCV000724058",
          "RCV002516724",
          "RCV001252359",
          "RCV003235097"
        ],
        "variationId": 196249
      }
    ]
  },
  "type": "amino-acid"
}