{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1007781268",
  "communityStandardTitle": [
    "NC_000001.11:g.152577542T>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4085613",
        "rs": 4085613
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152577542-T-C?dataset=gnomad_r3",
        "id": "1-152577542-T-C",
        "variant": "1:152577542 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152577542-T-C?dataset=gnomad_r4",
        "id": "1-152577542-T-C",
        "variant": "1:152577542 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 152577542,
          "referenceAllele": "T",
          "start": 152577541
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152577542T>C",
        "CM000663.2:g.152577542T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 152550018,
          "referenceAllele": "T",
          "start": 152550017
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152550018T>C",
        "CM000663.1:g.152550018T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 150816642,
          "referenceAllele": "T",
          "start": 150816641
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150816642T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "endIntronDirection": "-",
          "endIntronOffset": 23248,
          "referenceAllele": "T",
          "start": 44,
          "startIntronDirection": "-",
          "startIntronOffset": 23249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016612",
      "geneNCBI_id": 353144,
      "geneSymbol": "LCE3C",
      "hgvs": [
        "ENST00000617545.1:c.45-23249T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482477.1:n.45-23249T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403527"
    }
  ],
  "type": "nucleotide"
}