{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 310,
          "referenceAllele": "D",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NP_001223.2:p.Asp310Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175355",
          "hgvs": "NM_001232.4:c.928G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158514"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172473[alleleid]",
        "alleleId": 172473,
        "preferredName": "NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162810",
        "RCV": [
          "RCV000150220",
          "RCV000617384",
          "RCV000766689",
          "RCV001096938",
          "RCV002516015",
          "RCV001170441"
        ],
        "variationId": 162810
      }
    ]
  },
  "type": "amino-acid"
}