{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915953805",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 556,
          "referenceAllele": "I",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NP_000074.3:p.Ile556Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341541",
          "hgvs": "NM_000083.3:c.1667T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707337"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33893[alleleid]",
        "alleleId": 33893,
        "preferredName": "NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21041",
        "RCV": [
          "RCV001224306",
          "RCV001826481",
          "RCV003137538"
        ],
        "variationId": 21041
      }
    ]
  },
  "type": "amino-acid"
}