{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15570713",
  "communityStandardTitle": [
    "NM_000237.3(LPL):c.1323-298T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1163508[alleleid]",
        "alleleId": 1163508,
        "preferredName": "NM_000237.3(LPL):c.1323-298T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1174434",
        "RCV": [
          "RCV001528041"
        ],
        "variationId": 1174434
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.19819328T>C?assembly=hg19",
        "id": "chr8:g.19819328T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.19961817T>C?assembly=hg38",
        "id": "chr8:g.19961817T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/325",
        "rs": 325
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-19819328-T-C?dataset=gnomad_r2_1",
        "id": "8-19819328-T-C",
        "variant": "8:19819328 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-19961817-T-C?dataset=gnomad_r3",
        "id": "8-19961817-T-C",
        "variant": "8:19961817 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-19961817-T-C?dataset=gnomad_r4",
        "id": "8-19961817-T-C",
        "variant": "8:19961817 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 19961817,
          "referenceAllele": "T",
          "start": 19961816
        }
      ],
      "hgvs": [
        "NC_000008.11:g.19961817T>C",
        "CM000670.2:g.19961817T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 19819328,
          "referenceAllele": "T",
          "start": 19819327
        }
      ],
      "hgvs": [
        "NC_000008.10:g.19819328T>C",
        "CM000670.1:g.19819328T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 19863608,
          "referenceAllele": "T",
          "start": 19863607
        }
      ],
      "hgvs": [
        "NC_000008.9:g.19863608T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27747,
          "referenceAllele": "T",
          "start": 27746
        }
      ],
      "hgvs": [
        "NG_008855.1:g.27747T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65101,
          "referenceAllele": "T",
          "start": 65100
        }
      ],
      "hgvs": [
        "NG_008855.2:g.65101T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706089"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 297,
          "referenceAllele": "T",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000650287.1:c.1323-298T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497642.1:n.1323-298T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.1323-298T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.1323-298T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:n.1323-298T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:n.1323-298T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "-",
          "endIntronOffset": 297,
          "referenceAllele": "T",
          "start": 262,
          "startIntronDirection": "-",
          "startIntronOffset": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000650478.1:c.263-298T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497560.1:n.263-298T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "endIntronDirection": "-",
          "endIntronOffset": 297,
          "referenceAllele": "T",
          "start": 1792,
          "startIntronDirection": "-",
          "startIntronOffset": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000311322.8:c.1323-298T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309757.6:n.1323-298T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1692,
          "endIntronDirection": "-",
          "endIntronOffset": 297,
          "referenceAllele": "T",
          "start": 1692,
          "startIntronDirection": "-",
          "startIntronOffset": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.2:c.1323-298T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:n.1323-298T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 297,
          "referenceAllele": "T",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.3:c.1323-298T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:n.1323-298T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.1323-298T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.1323-298T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:n.1323-298T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:n.1323-298T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}