{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130673",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 232,
          "referenceAllele": "E",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NP_892023.1:p.Glu232Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130672",
          "hgvs": "NM_182978.4:c.694G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48489[alleleid]",
        "alleleId": 48489,
        "preferredName": "NM_182978.4(GNAL):c.694G>A (p.Glu232Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39969",
        "RCV": [
          "RCV000033103"
        ],
        "variationId": 39969
      }
    ]
  },
  "type": "amino-acid"
}