{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA308469",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 170,
          "referenceAllele": "S",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_002221.1:p.Ser170Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA308466",
          "hgvs": "NM_002230.4:c.509C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168100"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198503[alleleid]",
        "alleleId": 198503,
        "preferredName": "NM_002230.4(JUP):c.509C>T (p.Ser170Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201812",
        "RCV": [
          "RCV000321164",
          "RCV000378103",
          "RCV000541609",
          "RCV000588554",
          "RCV001175368",
          "RCV002336467",
          "RCV003416106"
        ],
        "variationId": 201812
      }
    ]
  },
  "type": "amino-acid"
}