{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645416144",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 246,
          "referenceAllele": "Y",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000359",
      "geneNCBI_id": 23746,
      "geneSymbol": "AIPL1",
      "hgvs": [
        "NP_055151.3:p.Tyr246Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8328414",
          "hgvs": "NM_014336.5:c.737A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=346815[alleleid]",
        "alleleId": 346815,
        "preferredName": "NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/324614",
        "RCV": [
          "RCV000332251",
          "RCV000385713",
          "RCV000981801",
          "RCV001075005",
          "RCV003456394"
        ],
        "variationId": 324614
      }
    ]
  },
  "type": "amino-acid"
}