{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826657432",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 114,
          "referenceAllele": "N",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_001269553.1:p.Asn114Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018269",
          "hgvs": "NM_001282624.2:c.342C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA018275",
          "hgvs": "NM_001282624.2:c.342C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162571"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29522[alleleid]",
        "alleleId": 29522,
        "preferredName": "NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77810[alleleid]",
        "alleleId": 77810,
        "preferredName": "NM_170707.4(LMNA):c.585C>A (p.Asn195Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14483",
        "RCV": [
          "RCV000015572",
          "RCV000057425",
          "RCV000211789",
          "RCV000794743"
        ],
        "variationId": 14483
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66913",
        "RCV": [
          "RCV000057424"
        ],
        "variationId": 66913
      }
    ]
  },
  "type": "amino-acid"
}