{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137197",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 736,
          "referenceAllele": "P",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_068831.1:p.Pro736Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137193",
          "hgvs": "NM_021991.4:c.2207C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177661"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55012[alleleid]",
        "alleleId": 55012,
        "preferredName": "NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45847",
        "RCV": [
          "RCV000039078",
          "RCV000157253",
          "RCV000463617",
          "RCV000621167",
          "RCV000757414",
          "RCV001124559",
          "RCV001123480"
        ],
        "variationId": 45847
      }
    ]
  },
  "type": "amino-acid"
}