{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA142691",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 123,
          "referenceAllele": "A",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NP_001182723.1:p.Ala123Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142688",
          "hgvs": "NM_001195794.1:c.368C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157135"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57310[alleleid]",
        "alleleId": 57310,
        "preferredName": "NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48146",
        "RCV": [
          "RCV000041436",
          "RCV000844624",
          "RCV001071445",
          "RCV001582535",
          "RCV002243688",
          "RCV003466890"
        ],
        "variationId": 48146
      }
    ]
  },
  "type": "amino-acid"
}