{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573241446",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_005046.2:p.Gly291Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA380329137",
          "hgvs": "NM_005055.5:c.872G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1436715[alleleid]",
        "alleleId": 1436715,
        "preferredName": "NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1477837",
        "RCV": [
          "RCV002018846"
        ],
        "variationId": 1477837
      }
    ]
  },
  "type": "amino-acid"
}