{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139710710",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 20,
          "referenceAllele": "E",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NP_006423.1:p.Glu20Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7268212",
          "hgvs": "NM_006432.5:c.58G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171983"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=979530[alleleid]",
        "alleleId": 979530,
        "preferredName": "NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/990180",
        "RCV": [
          "RCV001278151"
        ],
        "variationId": 990180
      }
    ]
  },
  "type": "amino-acid"
}