{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA237218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 391,
          "referenceAllele": "S",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_002221.1:p.Ser391Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA237215",
          "hgvs": "NM_002230.4:c.1172G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168100"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189969[alleleid]",
        "alleleId": 189969,
        "preferredName": "NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191672",
        "RCV": [
          "RCV000171959",
          "RCV000852719",
          "RCV001124754",
          "RCV001125740",
          "RCV001085221",
          "RCV002326943",
          "RCV001706115",
          "RCV003954999"
        ],
        "variationId": 191672
      }
    ]
  },
  "type": "amino-acid"
}