{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020123",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7,
          "referenceAllele": "P",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_001291647.1:p.Pro7Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000535",
          "hgvs": "NM_001304718.1:c.19C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891839198",
          "hgvs": "NM_001304718.1:c.19_21delinsGCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166244"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187370[alleleid]",
        "alleleId": 187370,
        "preferredName": "NM_000314.8(PTEN):c.610C>G (p.Pro204Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189415",
        "RCV": [
          "RCV000505702",
          "RCV000219704",
          "RCV001078173"
        ],
        "variationId": 189415
      }
    ]
  },
  "type": "amino-acid"
}