{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA313860",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 39,
          "referenceAllele": "S",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NP_006484.1:p.Ser39Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313858",
          "hgvs": "NM_006493.2:c.116C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172039"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202772[alleleid]",
        "alleleId": 202772,
        "preferredName": "NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205124",
        "RCV": [
          "RCV000187047",
          "RCV001058811",
          "RCV001729445"
        ],
        "variationId": 205124
      }
    ]
  },
  "type": "amino-acid"
}