{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2391101880",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.1150A= (p.Lys384=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964967",
        "rs": 121964967
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43059299,
          "referenceAllele": "T",
          "start": 43059298
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43059299T=",
        "CM000683.2:g.43059299T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21632,
          "referenceAllele": "A",
          "start": 21631
        }
      ],
      "hgvs": [
        "NG_008938.1:g.21632A=",
        "LRG_777:g.21632A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1150A="
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1150A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Lys384="
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Lys384="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "A",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "A",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "referenceAllele": "A",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "referenceAllele": "A",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000430013.1:c.111A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "referenceAllele": "A",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.1461A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000462349.5:n.441A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "A",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000491776.1:n.85A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "A",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000496485.1:n.650A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830773902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1395,
          "referenceAllele": "A",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.1150A=",
        "LRG_777t1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325518",
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "A",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "referenceAllele": "A",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "A",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "A",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "A",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "A",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "referenceAllele": "A",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "referenceAllele": "A",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325518",
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "A",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "A",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1396,
          "referenceAllele": "A",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "referenceAllele": "A",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1521,
          "referenceAllele": "A",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1433,
          "referenceAllele": "A",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.1201A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Lys401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2128,
          "referenceAllele": "A",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "referenceAllele": "A",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "A",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.835A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Lys279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1521,
          "referenceAllele": "A",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1521A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.1300A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.1300A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "A",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.2121A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830773902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1150A="
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1150A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Lys384="
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Lys384="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088325518",
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1408,
          "referenceAllele": "A",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.1150A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Lys384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}