{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580444472",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 291,
          "referenceAllele": "H",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023041",
      "geneNCBI_id": 57107,
      "geneSymbol": "PDSS2",
      "hgvs": [
        "NP_065114.3:p.His291Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3945999",
          "hgvs": "NM_020381.4:c.872A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176886"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1996505[alleleid]",
        "alleleId": 1996505,
        "preferredName": "NM_020381.4(PDSS2):c.872A>G (p.His291Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1948829",
        "RCV": [
          "RCV002685847"
        ],
        "variationId": 1948829
      }
    ]
  },
  "type": "amino-acid"
}