{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825119630",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 328,
          "referenceAllele": "H",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.His328Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374119741",
          "hgvs": "NM_000264.5:c.983A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=946728[alleleid]",
        "alleleId": 946728,
        "preferredName": "NM_000264.5(PTCH1):c.983A>T (p.His328Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/955224",
        "RCV": [
          "RCV001227825",
          "RCV003294091"
        ],
        "variationId": 955224
      }
    ]
  },
  "type": "amino-acid"
}