{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741919538",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 419,
          "referenceAllele": "S",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018782",
      "geneNCBI_id": 8030,
      "geneSymbol": "CCDC6",
      "hgvs": [
        "NP_005427.2:p.Ser419Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA376974045",
          "hgvs": "NM_005436.5:c.1257T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376974047",
          "hgvs": "NM_005436.5:c.1257T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376974060",
          "hgvs": "NM_005436.5:c.1255A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171068"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2786821[alleleid]",
        "alleleId": 2786821,
        "preferredName": "NM_005436.5(CCDC6):c.1257T>A (p.Ser419Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2623517",
        "RCV": [
          "RCV004365983"
        ],
        "variationId": 2623517
      }
    ]
  },
  "type": "amino-acid"
}