{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826980145",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 72,
          "referenceAllele": "K",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005141",
      "geneNCBI_id": 3240,
      "geneSymbol": "HP",
      "hgvs": [
        "NP_001305067.1:p.Lys72Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126027",
          "hgvs": "NM_001318138.2:c.214A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30937[alleleid]",
        "alleleId": 30937,
        "preferredName": "NM_005143.5(HP):c.214A>G (p.Lys72Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15898",
        "RCV": [
          "RCV000017244"
        ],
        "variationId": 15898
      }
    ]
  },
  "type": "amino-acid"
}