{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1586867032",
  "communityStandardTitle": [
    "NM_012208.4(HARS2):c.633+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224040",
        "rs": 863224040
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 140695846,
          "referenceAllele": "G",
          "start": 140695845
        }
      ],
      "hgvs": [
        "NC_000005.10:g.140695846G=",
        "CM000667.2:g.140695846G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 140075431,
          "referenceAllele": "G",
          "start": 140075430
        }
      ],
      "hgvs": [
        "NC_000005.9:g.140075431G=",
        "CM000667.1:g.140075431G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 140055615,
          "referenceAllele": "G",
          "start": 140055614
        }
      ],
      "hgvs": [
        "NC_000005.8:g.140055615G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9414,
          "referenceAllele": "G",
          "start": 9413
        }
      ],
      "hgvs": [
        "NG_021415.1:g.9414G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "hgvs": [
        "NG_032158.1:g.541C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005151"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000230771.9:c.633+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230771.3:n.633+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230771.9:c.633+1G="
          },
          "RefSeq": {
            "hgvs": "NM_012208.4:c.633+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230771.3:n.633+1G="
          },
          "RefSeq": {
            "hgvs": "NP_036340.1:n.633+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 605,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000503873.6:c.411+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424516.2:n.411+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 831,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000509299.6:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425695.2:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 639,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000520095.6:c.*211+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429220.1:n.*211+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000642452.1:c.599+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000642752.1:c.633+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493630.1:n.633+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 809,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000642970.1:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496011.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 915,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000643996.1:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495350.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000645065.1:c.651+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493571.1:n.651+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 721,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000645749.1:c.633+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494296.1:n.633+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000646468.1:c.651+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494965.1:n.651+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000647484.1:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494140.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 856,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000230771.7:c.633+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230771.3:n.633+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000448069.2:c.216+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407105.2:n.216+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000508522.5:c.558+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423616.1:n.558+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000510104.5:c.*434G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423530.1:n.*434G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "ENST00000513688.1:n.640+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001278731.1:c.558+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265660.1:n.558+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 734,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001278732.1:c.201+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265661.1:n.201+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 856,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_012208.3:c.633+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036340.1:n.633+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 869,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_011537619.1:c.651+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535921.1:n.651+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 869,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_011537620.1:c.651+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535922.1:n.651+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001363535.1:c.651+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350464.1:n.651+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001363536.1:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350465.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 920,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_017009288.1:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864777.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 913,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_017009289.1:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864778.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 930,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_017009290.2:c.-102+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864779.1:n.-102+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_017009291.1:c.-102+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864780.1:n.-102+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 543,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "XM_017009292.1:c.-102+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864781.1:n.-102+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_012208.4:c.633+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036340.1:n.633+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230771.9:c.633+1G="
          },
          "RefSeq": {
            "hgvs": "NM_012208.4:c.633+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230771.3:n.633+1G="
          },
          "RefSeq": {
            "hgvs": "NP_036340.1:n.633+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 752,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001278731.2:c.558+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265660.1:n.558+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 705,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001278732.2:c.201+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265661.1:n.201+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 845,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001363535.2:c.651+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350464.1:n.651+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 809,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004817",
      "geneNCBI_id": 23438,
      "geneSymbol": "HARS2",
      "hgvs": [
        "NM_001363536.2:c.423+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350465.1:n.423+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690681"
    }
  ],
  "type": "nucleotide"
}