{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825491865",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 126,
          "referenceAllele": "E",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077072.1:p.Glu126Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138975",
          "hgvs": "NM_001083603.3:c.376G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809647[alleleid]",
        "alleleId": 809647,
        "preferredName": "NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/824230",
        "RCV": [
          "RCV001021175",
          "RCV001861010",
          "RCV003159173"
        ],
        "variationId": 824230
      }
    ]
  },
  "type": "amino-acid"
}