{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580109612",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 74,
          "referenceAllele": "R",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NP_000257.1:p.Arg74Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413007861",
          "hgvs": "NM_000266.4:c.220C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146813"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2022273[alleleid]",
        "alleleId": 2022273,
        "preferredName": "NM_000266.4(NDP):c.220C>A (p.Arg74Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1969466",
        "RCV": [
          "RCV002730113"
        ],
        "variationId": 1969466
      }
    ]
  },
  "type": "amino-acid"
}