{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580528188",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 241,
          "referenceAllele": "D",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024213",
      "geneNCBI_id": 148113,
      "geneSymbol": "CILP2",
      "hgvs": [
        "NP_694953.2:p.Asp241Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9328463",
          "hgvs": "NM_153221.2:c.721G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2207429[alleleid]",
        "alleleId": 2207429,
        "preferredName": "NM_153221.2(CILP2):c.721G>A (p.Asp241Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2221411",
        "RCV": [
          "RCV004088125"
        ],
        "variationId": 2221411
      }
    ]
  },
  "type": "amino-acid"
}