{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA207091",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1143,
          "referenceAllele": "Q",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Gln1143Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA207090",
          "hgvs": "NM_014363.6:c.3427C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208021[alleleid]",
        "alleleId": 208021,
        "preferredName": "NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212112",
        "RCV": [
          "RCV000193535",
          "RCV000338267",
          "RCV000470007",
          "RCV001083422",
          "RCV001847871",
          "RCV003907705",
          "RCV004020340"
        ],
        "variationId": 212112
      }
    ]
  },
  "type": "amino-acid"
}