{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580484480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 45,
          "referenceAllele": "V",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_116034.2:p.Val45Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221723367",
          "hgvs": "NM_032645.5:c.133G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA221723373",
          "hgvs": "NM_032645.5:c.133G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1901289[alleleid]",
        "alleleId": 1901289,
        "preferredName": "NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2175150",
        "RCV": [
          "RCV002579002"
        ],
        "variationId": 2175150
      }
    ]
  },
  "type": "amino-acid"
}