{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645508271",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 123,
          "referenceAllele": "H",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_000305.3:p.His123Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377482282",
          "hgvs": "NM_000314.7:c.369C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377482283",
          "hgvs": "NM_000314.7:c.369C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=416940[alleleid]",
        "alleleId": 416940,
        "preferredName": "NM_000314.8(PTEN):c.369C>G (p.His123Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427587",
        "RCV": [
          "RCV000490619",
          "RCV002510905"
        ],
        "variationId": 427587
      }
    ]
  },
  "type": "amino-acid"
}