{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580463230",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 129,
          "referenceAllele": "S",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NP_078865.1:p.Ser129Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394653365",
          "hgvs": "NM_024589.3:c.386G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178373"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1945342[alleleid]",
        "alleleId": 1945342,
        "preferredName": "NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2421975",
        "RCV": [
          "RCV003116277",
          "RCV003294630"
        ],
        "variationId": 2421975
      }
    ]
  },
  "type": "amino-acid"
}