{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916042995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 78,
          "referenceAllele": "R",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341848.1:p.Arg78His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374117217",
          "hgvs": "NM_001354919.1:c.233G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625387"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=566065[alleleid]",
        "alleleId": 566065,
        "preferredName": "NM_000264.5(PTCH1):c.431G>A (p.Arg144His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/575795",
        "RCV": [
          "RCV000698113",
          "RCV001022287"
        ],
        "variationId": 575795
      }
    ]
  },
  "type": "amino-acid"
}