{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9234699",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.1299G>A (p.Ala433=)",
    "NM_001105578.2(SYCE2):c.613-138C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256782[alleleid]",
        "alleleId": 256782,
        "preferredName": "NM_000159.4(GCDH):c.1299G>A (p.Ala433=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/255395",
        "RCV": [
          "RCV000899021",
          "RCV000244004"
        ],
        "variationId": 255395
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13010337-G-A",
        "id": "19-13010337-G-A",
        "variant": "19:13010337 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13010337G>A?assembly=hg19",
        "id": "chr19:g.13010337G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12899523G>A?assembly=hg38",
        "id": "chr19:g.12899523G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150271870",
        "rs": 150271870
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13010337-G-A?dataset=gnomad_r2_1",
        "id": "19-13010337-G-A",
        "variant": "19:13010337 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12899523-G-A?dataset=gnomad_r3",
        "id": "19-12899523-G-A",
        "variant": "19:12899523 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12899523-G-A?dataset=gnomad_r4",
        "id": "19-12899523-G-A",
        "variant": "19:12899523 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12899523,
          "referenceAllele": "G",
          "start": 12899522
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12899523G>A",
        "CM000681.2:g.12899523G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 13010337,
          "referenceAllele": "G",
          "start": 13010336
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13010337G>A",
        "CM000681.1:g.13010337G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12871337,
          "referenceAllele": "G",
          "start": 12871336
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12871337G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13364,
          "referenceAllele": "G",
          "start": 13363
        }
      ],
      "hgvs": [
        "NG_009292.1:g.13364G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24750,
          "referenceAllele": "C",
          "start": 24749
        }
      ],
      "hgvs": [
        "NG_033049.1:g.24750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005381"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "G",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.1299G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Ala433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1299G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1299G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Ala433="
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Ala433="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000293695.8:c.613-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293695.6:n.613-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293695.8:c.613-138C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001105578.2:c.613-138C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293695.6:n.613-138C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001099048.1:n.613-138C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.1299G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Ala433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 631,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000293695.7:c.613-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293695.6:n.613-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1629G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*739G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1609,
          "referenceAllele": "G",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.1609G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 1660,
          "referenceAllele": "G",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591050.1:c.210+1660G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.1299G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Ala433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000592819.1:c.186-138C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825070402",
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "G",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.1299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Ala433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "NM_001105578.1:c.613-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001099048.1:n.613-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "endIntronDirection": "-",
          "endIntronOffset": 176,
          "referenceAllele": "G",
          "start": 1351,
          "startIntronDirection": "-",
          "startIntronOffset": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.1244-177G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.1244-177G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.1462G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1680G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_005259848.3:c.*23-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259905.1:n.*23-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 710,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.1244-711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:n.1244-711G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527882.1:c.610-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526184.1:n.610-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 741,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527883.1:c.*23-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526185.1:n.*23-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 1660,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.1243+1660G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.1243+1660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 710,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.1244-711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.1244-711G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 745,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_005259848.4:c.*23-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259905.1:n.*23-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 1026,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527882.2:c.610-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526184.1:n.610-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 1072,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527883.2:c.*23-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526185.1:n.*23-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 1660,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.1243+1660G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.1243+1660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 710,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.1244-711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.1244-711G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 710,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.1244-711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:n.1244-711G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825070402",
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "G",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.1299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Ala433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1299G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1299G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Ala433="
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Ala433="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 137,
          "referenceAllele": "C",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "NM_001105578.2:c.613-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001099048.1:n.613-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293695.8:c.613-138C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001105578.2:c.613-138C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293695.6:n.613-138C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001099048.1:n.613-138C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 176,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.1244-177G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.1244-177G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 176,
          "referenceAllele": "G",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.1244-177G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.1244-177G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}