{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA211105",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 545,
          "referenceAllele": "R",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NP_005563.1:p.Arg545His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017649",
          "hgvs": "NM_005572.4:c.1634G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171197"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172489[alleleid]",
        "alleleId": 172489,
        "preferredName": "NM_170707.4(LMNA):c.1634G>A (p.Arg545His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163878",
        "RCV": [
          "RCV000150955",
          "RCV000468904",
          "RCV000491650",
          "RCV000621850",
          "RCV000449630",
          "RCV000505801",
          "RCV001101061",
          "RCV001100810",
          "RCV001101055",
          "RCV001101062",
          "RCV000771819",
          "RCV001248958",
          "RCV001781492",
          "RCV001101057",
          "RCV001101058",
          "RCV001101059",
          "RCV001101060",
          "RCV003993830",
          "RCV003998208",
          "RCV004532675"
        ],
        "variationId": 163878
      }
    ]
  },
  "type": "amino-acid"
}