{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057501980",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 232,
          "referenceAllele": "S",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_001291646.4:p.Ser232Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377785003",
          "hgvs": "NM_001304717.5:c.695C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891834811",
          "hgvs": "NM_001304717.5:c.695_696delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3791174[alleleid]",
        "alleleId": 3791174,
        "preferredName": "NM_000314.8(PTEN):c.176C>T (p.Ser59Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3662804",
        "RCV": [
          "RCV005141206"
        ],
        "variationId": 3662804
      }
    ]
  },
  "type": "amino-acid"
}