{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA339514",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Gly38Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339512",
          "hgvs": "NM_000264.5:c.113G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212758[alleleid]",
        "alleleId": 212758,
        "preferredName": "NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216367",
        "RCV": [
          "RCV000200738",
          "RCV000492756",
          "RCV000761034",
          "RCV001723770",
          "RCV001818487"
        ],
        "variationId": 216367
      }
    ]
  },
  "type": "amino-acid"
}