{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658677328",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 50,
          "referenceAllele": "L",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Leu50Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA196555434",
          "hgvs": "NM_000264.5:c.149T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459937[alleleid]",
        "alleleId": 459937,
        "preferredName": "NM_000264.5(PTCH1):c.149T>C (p.Leu50Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453791",
        "RCV": [
          "RCV000546739",
          "RCV001011913"
        ],
        "variationId": 453791
      }
    ]
  },
  "type": "amino-acid"
}