{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916042984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 56,
          "referenceAllele": "E",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341848.1:p.Glu56Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374120190",
          "hgvs": "NM_001354919.1:c.168G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374120191",
          "hgvs": "NM_001354919.1:c.168G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625387"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459899[alleleid]",
        "alleleId": 459899,
        "preferredName": "NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3588449[alleleid]",
        "alleleId": 3588449,
        "preferredName": "NM_000264.5(PTCH1):c.366G>T (p.Glu122Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453861",
        "RCV": [
          "RCV000546788",
          "RCV004023662"
        ],
        "variationId": 453861
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3427250",
        "RCV": [
          "RCV004943455"
        ],
        "variationId": 3427250
      }
    ]
  },
  "type": "amino-acid"
}