{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573196452",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "E",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_001291646.4:p.Glu330Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377482791",
          "hgvs": "NM_001304717.5:c.989A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891838463",
          "hgvs": "NM_001304717.5:c.989_990delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1430909[alleleid]",
        "alleleId": 1430909,
        "preferredName": "NM_000314.8(PTEN):c.470A>C (p.Glu157Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1370842",
        "RCV": [
          "RCV001899438",
          "RCV002331381"
        ],
        "variationId": 1370842
      }
    ]
  },
  "type": "amino-acid"
}