{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105404",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 382,
          "referenceAllele": "S",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023041",
      "geneNCBI_id": 57107,
      "geneSymbol": "PDSS2",
      "hgvs": [
        "NP_065114.3:p.Ser382Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114835",
          "hgvs": "NM_020381.4:c.1145C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176886"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16240[alleleid]",
        "alleleId": 16240,
        "preferredName": "NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1201",
        "RCV": [
          "RCV000001260",
          "RCV001849250",
          "RCV002509141",
          "RCV002512637"
        ],
        "variationId": 1201
      }
    ]
  },
  "type": "amino-acid"
}