{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 124,
          "referenceAllele": "P",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NP_002746.1:p.Pro124Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279996",
          "hgvs": "NM_002755.4:c.371C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49214[alleleid]",
        "alleleId": 49214,
        "preferredName": "NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40744",
        "RCV": [
          "RCV000037595",
          "RCV000424633",
          "RCV000436322",
          "RCV000435315",
          "RCV000417448",
          "RCV000425638",
          "RCV000680623",
          "RCV001542689",
          "RCV001813306",
          "RCV002513329"
        ],
        "variationId": 40744
      }
    ]
  },
  "type": "amino-acid"
}