{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829513060",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 266,
          "referenceAllele": "V",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NP_004026.2:p.Val266Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8776913",
          "hgvs": "NM_004035.7:c.796G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1914457[alleleid]",
        "alleleId": 1914457,
        "preferredName": "NM_004035.7(ACOX1):c.796G>A (p.Val266Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2187048",
        "RCV": [
          "RCV002611304"
        ],
        "variationId": 2187048
      }
    ]
  },
  "type": "amino-acid"
}