{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830387606",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NP_851829.1:p.Gly124Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415182152",
          "hgvs": "NM_181312.4:c.370G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA415182155",
          "hgvs": "NM_181312.4:c.370G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184190"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1856909[alleleid]",
        "alleleId": 1856909,
        "preferredName": "NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2671858[alleleid]",
        "alleleId": 2671858,
        "preferredName": "NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1799618",
        "RCV": [
          "RCV002463259",
          "RCV003103038"
        ],
        "variationId": 1799618
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2506886",
        "RCV": [
          "RCV003237255"
        ],
        "variationId": 2506886
      }
    ]
  },
  "type": "amino-acid"
}