{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109695",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 177,
          "referenceAllele": "Q",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Gln177His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394697654",
          "hgvs": "NM_000303.3:c.531G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394697656",
          "hgvs": "NM_000303.3:c.531G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1421929[alleleid]",
        "alleleId": 1421929,
        "preferredName": "NM_000303.3(PMM2):c.531G>C (p.Gln177His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4928974[alleleid]",
        "alleleId": 4928974,
        "preferredName": "NM_000303.3(PMM2):c.531G>T (p.Gln177His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1408282",
        "RCV": [
          "RCV001909896"
        ],
        "variationId": 1408282
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4818141",
        "RCV": [
          "RCV006638362"
        ],
        "variationId": 4818141
      }
    ]
  },
  "type": "amino-acid"
}