{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099813",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 283,
          "referenceAllele": "L",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_005046.2:p.Leu283Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119255",
          "hgvs": "NM_005055.5:c.848T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23091[alleleid]",
        "alleleId": 23091,
        "preferredName": "NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8052",
        "RCV": [
          "RCV000008518",
          "RCV000178899",
          "RCV001255415",
          "RCV001336781",
          "RCV001731282",
          "RCV002512911",
          "RCV003460441"
        ],
        "variationId": 8052
      }
    ]
  },
  "type": "amino-acid"
}