{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825500751",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 285,
          "referenceAllele": "D",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077073.1:p.Asp285Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5138705",
          "hgvs": "NM_001083604.3:c.855C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374118778",
          "hgvs": "NM_001083604.3:c.855C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=420480[alleleid]",
        "alleleId": 420480,
        "preferredName": "NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/428834",
        "RCV": [
          "RCV000492565",
          "RCV000548435"
        ],
        "variationId": 428834
      }
    ]
  },
  "type": "amino-acid"
}