{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA278478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 73,
          "referenceAllele": "ITILELP",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001026851.2:p.Ile67_Pro73del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278477",
          "hgvs": "NM_001031681.3:c.199_219del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA342073",
          "hgvs": "NM_001031681.3:c.198_218del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149460"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34290[alleleid]",
        "alleleId": 34290,
        "preferredName": "NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186970[alleleid]",
        "alleleId": 186970,
        "preferredName": "NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21438",
        "RCV": [
          "RCV000020623",
          "RCV000780201",
          "RCV002051792",
          "RCV002513139"
        ],
        "variationId": 21438
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188906",
        "RCV": [
          "RCV000169266"
        ],
        "variationId": 188906
      }
    ]
  },
  "type": "amino-acid"
}