{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA334121",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1334,
          "referenceAllele": "S",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_000255.2:p.Ser1334Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334117",
          "hgvs": "NM_000264.5:c.4001G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186100[alleleid]",
        "alleleId": 186100,
        "preferredName": "NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188130",
        "RCV": [
          "RCV000167997",
          "RCV001021641",
          "RCV001589046",
          "RCV002492679",
          "RCV004552935"
        ],
        "variationId": 188130
      }
    ]
  },
  "type": "amino-acid"
}