{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175108",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 625,
          "referenceAllele": "M",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NP_006787.2:p.Met625Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175106",
          "hgvs": "NM_006796.3:c.1875G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401947156",
          "hgvs": "NM_006796.3:c.1875G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401947159",
          "hgvs": "NM_006796.3:c.1875G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172311"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172197[alleleid]",
        "alleleId": 172197,
        "preferredName": "NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162524",
        "RCV": [
          "RCV000149914",
          "RCV002265626",
          "RCV003144139"
        ],
        "variationId": 162524
      }
    ]
  },
  "type": "amino-acid"
}