{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580454994",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 144,
          "referenceAllele": "M",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NP_071909.1:p.Met144Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3432590",
          "hgvs": "NM_022464.5:c.430A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2114992[alleleid]",
        "alleleId": 2114992,
        "preferredName": "NM_022464.5(SIL1):c.430A>G (p.Met144Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2050647",
        "RCV": [
          "RCV002904547"
        ],
        "variationId": 2050647
      }
    ]
  },
  "type": "amino-acid"
}