{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645437278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Ala1373Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6911430",
          "hgvs": "NM_014363.6:c.4118C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237066[alleleid]",
        "alleleId": 237066,
        "preferredName": "NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235380",
        "RCV": [
          "RCV000290021",
          "RCV000224523",
          "RCV001112284",
          "RCV001084237",
          "RCV001847949"
        ],
        "variationId": 235380
      }
    ]
  },
  "type": "amino-acid"
}