{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828035293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1259,
          "referenceAllele": "L",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Leu1259Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16605764",
          "hgvs": "NM_001354918.1:c.3776T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=371062[alleleid]",
        "alleleId": 371062,
        "preferredName": "NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/392816",
        "RCV": [
          "RCV000434505",
          "RCV001059667",
          "RCV002356625"
        ],
        "variationId": 392816
      }
    ]
  },
  "type": "amino-acid"
}