{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916019796",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "referenceAllele": "N",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_001291646.4:p.Asn185Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377781897",
          "hgvs": "NM_001304717.5:c.554A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891835773",
          "hgvs": "NM_001304717.5:c.554_555delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=416933[alleleid]",
        "alleleId": 416933,
        "preferredName": "NM_000314.8(PTEN):c.35A>C (p.Asn12Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427586",
        "RCV": [
          "RCV000490596"
        ],
        "variationId": 427586
      }
    ]
  },
  "type": "amino-acid"
}