{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2579817163",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 171,
          "referenceAllele": "Q",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_000305.3:p.Gln171Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377484281",
          "hgvs": "NM_000314.7:c.511C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891838691",
          "hgvs": "NM_000314.7:c.511_513delinsGAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=837430[alleleid]",
        "alleleId": 837430,
        "preferredName": "NM_000314.8(PTEN):c.511C>G (p.Gln171Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/844941",
        "RCV": [
          "RCV001047913",
          "RCV002348382"
        ],
        "variationId": 844941
      }
    ]
  },
  "type": "amino-acid"
}