{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124263",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1012,
          "referenceAllele": "V",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006091",
      "geneNCBI_id": 3643,
      "geneSymbol": "INSR",
      "hgvs": [
        "NP_000199.2:p.Val1012Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124262",
          "hgvs": "NM_000208.4:c.3034G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146757"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29746[alleleid]",
        "alleleId": 29746,
        "preferredName": "NM_000208.4(INSR):c.3034G>A (p.Val1012Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14707",
        "RCV": [
          "RCV000015822",
          "RCV000175131",
          "RCV000344820",
          "RCV000515071",
          "RCV001132184",
          "RCV001258250",
          "RCV000445519",
          "RCV001132183"
        ],
        "variationId": 14707
      }
    ]
  },
  "type": "amino-acid"
}