{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112723",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 130,
          "referenceAllele": "R",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_000305.3:p.Arg130Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000437",
          "hgvs": "NM_000314.7:c.389G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22868[alleleid]",
        "alleleId": 22868,
        "preferredName": "NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7829",
        "RCV": [
          "RCV000008275",
          "RCV000131067",
          "RCV000212880",
          "RCV000178761",
          "RCV000419778",
          "RCV000422627",
          "RCV000435236",
          "RCV000420647",
          "RCV000437651",
          "RCV000421074",
          "RCV000429864",
          "RCV000420485",
          "RCV000432211",
          "RCV000427853",
          "RCV000438720",
          "RCV000429175",
          "RCV000439397",
          "RCV000440076",
          "RCV000432862",
          "RCV002228017"
        ],
        "variationId": 7829
      }
    ]
  },
  "type": "amino-acid"
}