{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580450988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 53,
          "referenceAllele": "L",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001192",
      "geneNCBI_id": 26589,
      "geneSymbol": "MRPL46",
      "hgvs": [
        "NP_071446.2:p.Leu53Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7717687",
          "hgvs": "NM_022163.4:c.157C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177782"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2272165[alleleid]",
        "alleleId": 2272165,
        "preferredName": "NM_022163.4(MRPL46):c.157C>G (p.Leu53Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2277161",
        "RCV": [
          "RCV004124935"
        ],
        "variationId": 2277161
      }
    ]
  },
  "type": "amino-acid"
}