{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829694200",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 175,
          "referenceAllele": "V",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008830",
      "geneNCBI_id": 10400,
      "geneSymbol": "PEMT",
      "hgvs": [
        "NP_009100.2:p.Val175Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8417709",
          "hgvs": "NM_007169.3:c.523G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172634"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1269516[alleleid]",
        "alleleId": 1269516,
        "preferredName": "NM_148172.3(PEMT):c.634G>A (p.Val212Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1279483",
        "RCV": [
          "RCV001693056"
        ],
        "variationId": 1279483
      }
    ]
  },
  "type": "amino-acid"
}