{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916044530",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 448,
          "referenceAllele": "S",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001350769.1:p.Ser448Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10247981",
          "hgvs": "NM_001363840.3:c.1342T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237095[alleleid]",
        "alleleId": 237095,
        "preferredName": "NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235410",
        "RCV": [
          "RCV000224729",
          "RCV000526230",
          "RCV002516223"
        ],
        "variationId": 235410
      }
    ]
  },
  "type": "amino-acid"
}