{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 280,
          "referenceAllele": "R",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_001121132.1:p.Arg280His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252151",
          "hgvs": "NM_001127660.2:c.839G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17310[alleleid]",
        "alleleId": 17310,
        "preferredName": "NM_014874.4(MFN2):c.839G>A (p.Arg280His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2271",
        "RCV": [
          "RCV000002359",
          "RCV000236600",
          "RCV000549934",
          "RCV000789418",
          "RCV001836692",
          "RCV002468552"
        ],
        "variationId": 2271
      }
    ]
  },
  "type": "amino-acid"
}