{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA180745",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 67,
          "referenceAllele": "D",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NP_002746.1:p.Asp67Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA180743",
          "hgvs": "NM_002755.4:c.199G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49251[alleleid]",
        "alleleId": 49251,
        "preferredName": "NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40781",
        "RCV": [
          "RCV000158004",
          "RCV000192193",
          "RCV000208771",
          "RCV000212506",
          "RCV000423708",
          "RCV000439184",
          "RCV000754677",
          "RCV000844673",
          "RCV001095724",
          "RCV002415455",
          "RCV003224114"
        ],
        "variationId": 40781
      }
    ]
  },
  "type": "amino-acid"
}