{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580443264",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 313,
          "referenceAllele": "H",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017245",
      "geneNCBI_id": 57094,
      "geneSymbol": "CPA6",
      "hgvs": [
        "NP_065094.3:p.His313Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371260282",
          "hgvs": "NM_020361.5:c.939C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371260283",
          "hgvs": "NM_020361.5:c.939C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176868"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2414880[alleleid]",
        "alleleId": 2414880,
        "preferredName": "NM_020361.5(CPA6):c.939C>G (p.His313Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2440521",
        "RCV": [
          "RCV003145866"
        ],
        "variationId": 2440521
      }
    ]
  },
  "type": "amino-acid"
}