{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175354",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 377,
          "referenceAllele": "E",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NP_001223.2:p.Glu377Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175352",
          "hgvs": "NM_001232.4:c.1131A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341766293",
          "hgvs": "NM_001232.4:c.1131A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158514"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172333[alleleid]",
        "alleleId": 172333,
        "preferredName": "NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162809",
        "RCV": [
          "RCV000150219",
          "RCV000618959",
          "RCV002514879"
        ],
        "variationId": 162809
      }
    ]
  },
  "type": "amino-acid"
}