{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139688249",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 312,
          "referenceAllele": "M",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NP_001305754.1:p.Met312Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252931",
          "hgvs": "NM_001318825.2:c.935T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640210"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18972[alleleid]",
        "alleleId": 18972,
        "preferredName": "NM_000520.6(HEXA):c.902T>G (p.Met301Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3933",
        "RCV": [
          "RCV000004139",
          "RCV001250228"
        ],
        "variationId": 3933
      }
    ]
  },
  "type": "amino-acid"
}