{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112733",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 130,
          "referenceAllele": "R",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NP_000305.3:p.Arg130Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602940",
          "hgvs": "NM_000314.7:c.389G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891837697",
          "hgvs": "NM_000314.7:c.388_390delinsTTG"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275504296",
          "hgvs": "NM_000314.7:c.388_389delinsTT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275504392",
          "hgvs": "NM_000314.7:c.389_390delinsTC"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275504393",
          "hgvs": "NM_000314.7:c.389_390delinsTG"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3275504395",
          "hgvs": "NM_000314.7:c.389_390delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363388[alleleid]",
        "alleleId": 363388,
        "preferredName": "NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376509",
        "RCV": [
          "RCV000419474",
          "RCV000421727",
          "RCV000422329",
          "RCV000424192",
          "RCV000427024",
          "RCV000429105",
          "RCV000429740",
          "RCV000431964",
          "RCV000440004",
          "RCV000434449",
          "RCV000439348",
          "RCV000443701",
          "RCV000443776",
          "RCV000482735",
          "RCV000490825",
          "RCV001851019",
          "RCV003152708"
        ],
        "variationId": 376509
      }
    ]
  },
  "type": "amino-acid"
}