{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645463961",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 125,
          "referenceAllele": "T",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "NP_006614.2:p.Thr125Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1037066",
          "hgvs": "NM_006623.4:c.374C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172156"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360801[alleleid]",
        "alleleId": 360801,
        "preferredName": "NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373899",
        "RCV": [
          "RCV000414985",
          "RCV001196165",
          "RCV002524662"
        ],
        "variationId": 373899
      }
    ]
  },
  "type": "amino-acid"
}