{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915979337",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 495,
          "referenceAllele": "F",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011106",
      "geneNCBI_id": 6602,
      "geneSymbol": "SMARCD1",
      "hgvs": [
        "NP_003067.3:p.Phe495Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384797193",
          "hgvs": "NM_003076.5:c.1483T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384797203",
          "hgvs": "NM_003076.5:c.1485C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384797204",
          "hgvs": "NM_003076.5:c.1485C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800933[alleleid]",
        "alleleId": 800933,
        "preferredName": "NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812682",
        "RCV": [
          "RCV001003488"
        ],
        "variationId": 812682
      }
    ]
  },
  "type": "amino-acid"
}