{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499247379",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 344,
          "referenceAllele": "Q",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_001291646.4:p.Gln344Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377484280",
          "hgvs": "NM_001304717.5:c.1030C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891838693",
          "hgvs": "NM_001304717.5:c.1030_1032delinsAAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1187636[alleleid]",
        "alleleId": 1187636,
        "preferredName": "NM_000314.8(PTEN):c.511C>A (p.Gln171Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1198486",
        "RCV": [
          "RCV001562662"
        ],
        "variationId": 1198486
      }
    ]
  },
  "type": "amino-acid"
}