{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA321689288",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.1145+436C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43060005G>T?assembly=hg38",
        "id": "chr21:g.43060005G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11203172",
        "rs": 11203172
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43060005,
          "referenceAllele": "G",
          "start": 43060004
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43060005G>T",
        "CM000683.2:g.43060005G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20926,
          "referenceAllele": "C",
          "start": 20925
        }
      ],
      "hgvs": [
        "NG_008938.1:g.20926C>A",
        "LRG_777:g.20926C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1145+436C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1145+436C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:n.1145+436C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:n.1145+436C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1367,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1253,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1405,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000430013.1:c.106+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.1456+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 80,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000491776.1:n.80+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000496485.1:n.645+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1390,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.1145+436C>A",
        "LRG_777t1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1367,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1367,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1367,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1512,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1512,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1333,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1392,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1386,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1386,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1398,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1796,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1796,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1423,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1423,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1397,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1397,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1391,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1516,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1516,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1428,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 2079,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 2079,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.1196+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:n.1196+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2123,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 2123,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2117,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 2117,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2020,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 2020,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.830+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:n.830+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1516,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1516,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1516+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.1295+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.1295+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.2116+436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1145+436C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1145+436C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:n.1145+436C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:n.1145+436C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "endIntronDirection": "+",
          "endIntronOffset": 436,
          "referenceAllele": "C",
          "start": 1403,
          "startIntronDirection": "+",
          "startIntronOffset": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.1145+436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:n.1145+436C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}