{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA142647",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 420,
          "referenceAllele": "L",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016356",
      "geneNCBI_id": 124590,
      "geneSymbol": "USH1G",
      "hgvs": [
        "NP_775748.2:p.Leu420Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142646",
          "hgvs": "NM_173477.5:c.1258C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183358"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57290[alleleid]",
        "alleleId": 57290,
        "preferredName": "NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48126",
        "RCV": [
          "RCV000041414",
          "RCV000724716",
          "RCV001123313",
          "RCV004541211"
        ],
        "variationId": 48126
      }
    ]
  },
  "type": "amino-acid"
}