{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA695429",
  "communityStandardTitle": [
    "NM_015627.3(LDLRAP1):c.89-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19818[alleleid]",
        "alleleId": 19818,
        "preferredName": "NM_015627.3(LDLRAP1):c.89-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4779",
        "RCV": [
          "RCV000005045",
          "RCV001826420"
        ],
        "variationId": 4779
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-25880412-G-C",
        "id": "1-25880412-G-C",
        "variant": "1:25880412 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.25880412G>C?assembly=hg19",
        "id": "chr1:g.25880412G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.25553921G>C?assembly=hg38",
        "id": "chr1:g.25553921G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755104973",
        "rs": 755104973
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-25880412-G-C?dataset=gnomad_r2_1",
        "id": "1-25880412-G-C",
        "variant": "1:25880412 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-25553921-G-C?dataset=gnomad_r4",
        "id": "1-25553921-G-C",
        "variant": "1:25553921 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 25553921,
          "referenceAllele": "G",
          "start": 25553920
        }
      ],
      "hgvs": [
        "NC_000001.11:g.25553921G>C",
        "CM000663.2:g.25553921G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 25880412,
          "referenceAllele": "G",
          "start": 25880411
        }
      ],
      "hgvs": [
        "NC_000001.10:g.25880412G>C",
        "CM000663.1:g.25880412G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 25752999,
          "referenceAllele": "G",
          "start": 25752998
        }
      ],
      "hgvs": [
        "NC_000001.9:g.25752999G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15337,
          "referenceAllele": "G",
          "start": 15336
        }
      ],
      "hgvs": [
        "NG_008932.1:g.15337G>C",
        "LRG_276:g.15337G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001310"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "ENST00000374338.5:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363458.4:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374338.5:c.89-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015627.3:c.89-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363458.4:n.89-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_056442.2:n.89-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "ENST00000374338.4:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363458.4:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 75,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 75,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "ENST00000485476.2:n.76-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "ENST00000488127.1:n.558G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 202,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "NM_015627.2:c.89-1G>C",
        "LRG_276t1:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056442.2:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_006710559.2:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710622.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_006710560.2:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710623.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_006710561.2:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710624.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541209.1:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539511.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541210.1:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539512.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541211.1:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539513.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541212.1:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539514.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_426598.2:n.208-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_946602.1:n.208-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_946603.1:n.208-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_006710559.4:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710622.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_006710560.4:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710623.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_006710561.4:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710624.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541209.3:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539511.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541210.3:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539512.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541211.3:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539513.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_011541212.3:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539514.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1145,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1145,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_017000994.2:c.8-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856483.1:n.8-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_017000995.2:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856484.1:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 513,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XM_024446315.1:c.-47-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302083.1:n.-47-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_001737112.2:n.159-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_001737113.2:n.159-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_002956258.1:n.159-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_426598.4:n.159-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_946602.3:n.159-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "XR_946603.3:n.159-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 181,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018640",
      "geneNCBI_id": 26119,
      "geneSymbol": "LDLRAP1",
      "hgvs": [
        "NM_015627.3:c.89-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056442.2:n.89-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374338.5:c.89-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015627.3:c.89-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363458.4:n.89-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_056442.2:n.89-1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}