{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580257439",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 126,
          "referenceAllele": "K",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001636",
      "geneNCBI_id": 911,
      "geneSymbol": "CD1C",
      "hgvs": [
        "NP_001756.2:p.Lys126Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1178791",
          "hgvs": "NM_001765.3:c.378G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA342988413",
          "hgvs": "NM_001765.3:c.378G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167653"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2200743[alleleid]",
        "alleleId": 2200743,
        "preferredName": "NM_001765.3(CD1C):c.378G>T (p.Lys126Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2209950",
        "RCV": [
          "RCV004081392"
        ],
        "variationId": 2209950
      }
    ]
  },
  "type": "amino-acid"
}