{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828035996",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "E",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Glu1386Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349173",
          "hgvs": "NM_001354918.1:c.4157A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221865[alleleid]",
        "alleleId": 221865,
        "preferredName": "NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220426",
        "RCV": [
          "RCV000205005",
          "RCV001022274",
          "RCV002460987",
          "RCV002485350"
        ],
        "variationId": 220426
      }
    ]
  },
  "type": "amino-acid"
}