{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107222",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NP_002769.1:p.Cys241Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123057",
          "hgvs": "NM_002778.4:c.722G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377149657",
          "hgvs": "NM_002778.4:c.721T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28402[alleleid]",
        "alleleId": 28402,
        "preferredName": "NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13363",
        "RCV": [
          "RCV000588928",
          "RCV004527289",
          "RCV000014291"
        ],
        "variationId": 13363
      }
    ]
  },
  "type": "amino-acid"
}