{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA114932",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 426,
          "referenceAllele": "E",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016438",
      "geneNCBI_id": 83959,
      "geneSymbol": "SLC4A11",
      "hgvs": [
        "NP_001167561.1:p.Glu426Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114930",
          "hgvs": "NM_001174090.2:c.1276G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156128"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16362[alleleid]",
        "alleleId": 16362,
        "preferredName": "NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323",
        "RCV": [
          "RCV000001386",
          "RCV003230339",
          "RCV003555885"
        ],
        "variationId": 1323
      }
    ]
  },
  "type": "amino-acid"
}