{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645508390",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 247,
          "referenceAllele": "L",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_000305.3:p.Leu247Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044135",
          "hgvs": "NM_000314.7:c.740T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891839844",
          "hgvs": "NM_000314.7:c.740_741delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224868[alleleid]",
        "alleleId": 224868,
        "preferredName": "NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223142",
        "RCV": [
          "RCV000416564",
          "RCV000790884"
        ],
        "variationId": 223142
      }
    ]
  },
  "type": "amino-acid"
}