{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573293019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "A",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_116034.2:p.Ala189Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5976702",
          "hgvs": "NM_032645.5:c.566C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1423354[alleleid]",
        "alleleId": 1423354,
        "preferredName": "NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1448655",
        "RCV": [
          "RCV002012209"
        ],
        "variationId": 1448655
      }
    ]
  },
  "type": "amino-acid"
}