{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA263612",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 352,
          "referenceAllele": "Q",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NP_001035897.1:p.Gln352His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263608",
          "hgvs": "NM_001042432.2:c.1056G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA395343889",
          "hgvs": "NM_001042432.2:c.1056G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150163"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70887[alleleid]",
        "alleleId": 70887,
        "preferredName": "NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=644537[alleleid]",
        "alleleId": 644537,
        "preferredName": "NM_001042432.2(CLN3):c.1056G>T (p.Gln352His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56248",
        "RCV": [
          "RCV000049660"
        ],
        "variationId": 56248
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/660322",
        "RCV": [
          "RCV000817490"
        ],
        "variationId": 660322
      }
    ]
  },
  "type": "amino-acid"
}