{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA216777",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 197,
          "referenceAllele": "D",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006442",
      "geneNCBI_id": 3852,
      "geneSymbol": "KRT5",
      "hgvs": [
        "NP_000415.2:p.Asp197Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA216776",
          "hgvs": "NM_000424.4:c.591C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6582796",
          "hgvs": "NM_000424.4:c.591C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3250141982",
          "hgvs": "NM_000424.4:c.591_594delinsAACA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146967"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77172[alleleid]",
        "alleleId": 77172,
        "preferredName": "NM_000424.4(KRT5):c.591C>A (p.Asp197Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4638802[alleleid]",
        "alleleId": 4638802,
        "preferredName": "NM_000424.4(KRT5):c.591_594delinsAACA (p.Asp197Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66275",
        "RCV": [
          "RCV000056634",
          "RCV000250318",
          "RCV000327778"
        ],
        "variationId": 66275
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4526404",
        "RCV": [
          "RCV006249176"
        ],
        "variationId": 4526404
      }
    ]
  },
  "type": "amino-acid"
}