{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382907826",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.148+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545781[alleleid]",
        "alleleId": 545781,
        "preferredName": "NM_001164277.2(SLC37A4):c.148+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/549913",
        "RCV": [
          "RCV000664487"
        ],
        "variationId": 549913
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118899930A>G?assembly=hg19",
        "id": "chr11:g.118899930A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119029220A>G?assembly=hg38",
        "id": "chr11:g.119029220A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1449998297",
        "rs": 1449998297
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119029220,
          "referenceAllele": "A",
          "start": 119029219
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119029220A>G",
        "CM000673.2:g.119029220A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118899930,
          "referenceAllele": "A",
          "start": 118899929
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118899930A>G",
        "CM000673.1:g.118899930A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118405140,
          "referenceAllele": "A",
          "start": 118405139
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118405140A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6687,
          "referenceAllele": "T",
          "start": 6686
        }
      ],
      "hgvs": [
        "NG_013331.1:g.6687T>C",
        "LRG_187:g.6687T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.377+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.377+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.377+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697848.1:n.377+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 623,
          "referenceAllele": "T",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.623T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.377+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 623,
          "referenceAllele": "T",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.623T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.451+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.385+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.384+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.553+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 589,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 589,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.148+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 571,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.571+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 905,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.905+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.148+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525787.1:n.443+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526626.6:n.343+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.375+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.166+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 172,
          "referenceAllele": "T",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.197+172T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "referenceAllele": "T",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.1644T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532888.6:n.343+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000534384.1:n.368+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 172,
          "referenceAllele": "T",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.-172+172T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:n.-172+172T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 905,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 905,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.148+2T>C",
        "LRG_187t1:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 589,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 589,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 172,
          "referenceAllele": "T",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.-172+172T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:n.-172+172T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 347,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 560,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 172,
          "referenceAllele": "T",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.-172+172T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:n.-172+172T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 259,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.148+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:n.148+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.148+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.148+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:n.148+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:n.148+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}