{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645505847",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 380,
          "referenceAllele": "E",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Glu380Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16612867",
          "hgvs": "NM_000264.5:c.1138G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397440[alleleid]",
        "alleleId": 397440,
        "preferredName": "NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409137",
        "RCV": [
          "RCV000472279",
          "RCV000764848",
          "RCV002323720"
        ],
        "variationId": 409137
      }
    ]
  },
  "type": "amino-acid"
}