{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645507308",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1348,
          "referenceAllele": "N",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Asn1348Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5137969",
          "hgvs": "NM_000264.5:c.4042A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397169[alleleid]",
        "alleleId": 397169,
        "preferredName": "NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409143",
        "RCV": [
          "RCV000477533",
          "RCV002323721"
        ],
        "variationId": 409143
      }
    ]
  },
  "type": "amino-acid"
}