{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916071581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 138,
          "referenceAllele": "V",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_116034.2:p.Val138Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5976748",
          "hgvs": "NM_032645.5:c.412G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328017[alleleid]",
        "alleleId": 328017,
        "preferredName": "NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304980",
        "RCV": [
          "RCV000269370",
          "RCV000366609",
          "RCV001276398",
          "RCV002480112",
          "RCV000810152"
        ],
        "variationId": 304980
      }
    ]
  },
  "type": "amino-acid"
}