{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829726296",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 280,
          "referenceAllele": "M",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NP_036354.1:p.Met280Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10577722",
          "hgvs": "NM_012222.3:c.838A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232244[alleleid]",
        "alleleId": 232244,
        "preferredName": "NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232291",
        "RCV": [
          "RCV000216419",
          "RCV000479475",
          "RCV000536194",
          "RCV001355443"
        ],
        "variationId": 232291
      }
    ]
  },
  "type": "amino-acid"
}