{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA316037",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 227,
          "referenceAllele": "N",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "NP_940988.2:p.Asn227Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA316036",
          "hgvs": "NM_198586.3:c.681T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362826529",
          "hgvs": "NM_198586.3:c.681T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185190"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201956[alleleid]",
        "alleleId": 201956,
        "preferredName": "NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206190",
        "RCV": [
          "RCV000675657",
          "RCV001081130",
          "RCV002362984",
          "RCV003937662"
        ],
        "variationId": 206190
      }
    ]
  },
  "type": "amino-acid"
}