{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825487017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 710,
          "referenceAllele": "D",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077071.1:p.Asp710Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA196585882",
          "hgvs": "NM_001083602.3:c.2130C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374114587",
          "hgvs": "NM_001083602.3:c.2130C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=525313[alleleid]",
        "alleleId": 525313,
        "preferredName": "NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638523[alleleid]",
        "alleleId": 638523,
        "preferredName": "NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524541",
        "RCV": [
          "RCV000628375",
          "RCV001015200",
          "RCV003459482"
        ],
        "variationId": 524541
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642377",
        "RCV": [
          "RCV000795832",
          "RCV001015201"
        ],
        "variationId": 642377
      }
    ]
  },
  "type": "amino-acid"
}