{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830432364",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 55,
          "referenceAllele": "D",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025839",
      "geneNCBI_id": 57822,
      "geneSymbol": "GRHL3",
      "hgvs": [
        "NP_937817.3:p.Asp55Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA689815",
          "hgvs": "NM_198174.3:c.165C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA339041983",
          "hgvs": "NM_198174.3:c.165C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184962"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1108858[alleleid]",
        "alleleId": 1108858,
        "preferredName": "NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1120074",
        "RCV": [
          "RCV001449722",
          "RCV001511084",
          "RCV001673063"
        ],
        "variationId": 1120074
      }
    ]
  },
  "type": "amino-acid"
}