{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825506383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 291,
          "referenceAllele": "V",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077074.1:p.Val291Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138701",
          "hgvs": "NM_001083605.3:c.871G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374118746",
          "hgvs": "NM_001083605.3:c.871G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150880"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=475171[alleleid]",
        "alleleId": 475171,
        "preferredName": "NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2184950[alleleid]",
        "alleleId": 2184950,
        "preferredName": "NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/486199",
        "RCV": [
          "RCV000564856",
          "RCV001222454",
          "RCV003465272"
        ],
        "variationId": 486199
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2124489",
        "RCV": [
          "RCV003039641"
        ],
        "variationId": 2124489
      }
    ]
  },
  "type": "amino-acid"
}