{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827185375",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 19,
          "referenceAllele": "T",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NP_001310009.1:p.Thr19Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5412402",
          "hgvs": "NM_001323080.2:c.56C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624675"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=309753[alleleid]",
        "alleleId": 309753,
        "preferredName": "NM_006214.4(PHYH):c.356C>T (p.Thr119Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/299255",
        "RCV": [
          "RCV000319288",
          "RCV000960582",
          "RCV003930251"
        ],
        "variationId": 299255
      }
    ]
  },
  "type": "amino-acid"
}