{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573086814",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 333,
          "referenceAllele": "A",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000143",
      "geneNCBI_id": 70,
      "geneSymbol": "ACTC1",
      "hgvs": [
        "NP_005150.1:p.Ala333Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391629237",
          "hgvs": "NM_005159.5:c.997G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170813"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1319966[alleleid]",
        "alleleId": 1319966,
        "preferredName": "NM_005159.5(ACTC1):c.997G>T (p.Ala333Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1329279",
        "RCV": [
          "RCV001799322"
        ],
        "variationId": 1329279
      }
    ]
  },
  "type": "amino-acid"
}