{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916019937",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 346,
          "referenceAllele": "R",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_001291646.4:p.Arg346Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000498",
          "hgvs": "NM_001304717.5:c.1036C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891838729",
          "hgvs": "NM_001304717.5:c.1036_1038delinsTGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187363[alleleid]",
        "alleleId": 187363,
        "preferredName": "NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189500",
        "RCV": [
          "RCV000169890",
          "RCV000218276",
          "RCV000445192",
          "RCV000490574",
          "RCV000678738",
          "RCV000850588",
          "RCV002273970",
          "RCV001813763",
          "RCV002478525",
          "RCV003448976",
          "RCV003468848"
        ],
        "variationId": 189500
      }
    ]
  },
  "type": "amino-acid"
}