{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580405165",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 136,
          "referenceAllele": "R",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "NP_061129.1:p.Arg136His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2833164",
          "hgvs": "NM_018659.3:c.407G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176363"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2342808[alleleid]",
        "alleleId": 2342808,
        "preferredName": "NM_018659.3(CYTL1):c.407G>A (p.Arg136His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2351747",
        "RCV": [
          "RCV004189849"
        ],
        "variationId": 2351747
      }
    ]
  },
  "type": "amino-acid"
}