{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111353",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 181,
          "referenceAllele": "V",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_000301.1:p.Val181Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263521",
          "hgvs": "NM_000310.4:c.541G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA339847926",
          "hgvs": "NM_000310.4:c.541G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70841[alleleid]",
        "alleleId": 70841,
        "preferredName": "NM_000310.4(PPT1):c.541G>T (p.Val181Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1058725[alleleid]",
        "alleleId": 1058725,
        "preferredName": "NM_000310.4(PPT1):c.541G>C (p.Val181Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56202",
        "RCV": [
          "RCV000049613",
          "RCV000436288",
          "RCV001526944",
          "RCV002222156"
        ],
        "variationId": 56202
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072746",
        "RCV": [
          "RCV001547349",
          "RCV001385552"
        ],
        "variationId": 1072746
      }
    ]
  },
  "type": "amino-acid"
}