{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573274943",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 260,
          "referenceAllele": "Q",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NP_065857.1:p.Gln260Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7233829",
          "hgvs": "NM_020806.5:c.779A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177129"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1502822[alleleid]",
        "alleleId": 1502822,
        "preferredName": "NM_020806.5(GPHN):c.779A>G (p.Gln260Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1420041",
        "RCV": [
          "RCV001943447",
          "RCV004044042"
        ],
        "variationId": 1420041
      }
    ]
  },
  "type": "amino-acid"
}