{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139683218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 141,
          "referenceAllele": "A",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NP_000246.2:p.Ala141Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3847113",
          "hgvs": "NM_000255.4:c.422C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146802"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=966771[alleleid]",
        "alleleId": 966771,
        "preferredName": "NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/978683",
        "RCV": [
          "RCV001257407",
          "RCV003558770",
          "RCV004526821"
        ],
        "variationId": 978683
      }
    ]
  },
  "type": "amino-acid"
}