{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112798",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_000305.3:p.Cys124Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000422",
          "hgvs": "NM_000314.7:c.370T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891837444",
          "hgvs": "NM_000314.7:c.370_372delinsAGA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275503515",
          "hgvs": "NM_000314.7:c.370_372delinsCGC"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275503517",
          "hgvs": "NM_000314.7:c.370_372delinsCGA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275503518",
          "hgvs": "NM_000314.7:c.370_372delinsAGG"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275503552",
          "hgvs": "NM_000314.7:c.370_372delinsCGG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22856[alleleid]",
        "alleleId": 22856,
        "preferredName": "NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7817",
        "RCV": [
          "RCV000008261",
          "RCV000485809",
          "RCV000700581",
          "RCV001020947",
          "RCV003162217"
        ],
        "variationId": 7817
      }
    ]
  },
  "type": "amino-acid"
}