{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10644742",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.373C>T (p.Arg125Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=336881[alleleid]",
        "alleleId": 336881,
        "preferredName": "NM_000071.3(CBS):c.373C>T (p.Arg125Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/340089",
        "RCV": [
          "RCV000667483",
          "RCV001175468",
          "RCV002231054",
          "RCV003736733"
        ],
        "variationId": 340089
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43066321G>A?assembly=hg38",
        "id": "chr21:g.43066321G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886057100",
        "rs": 886057100
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-43066321-G-A?dataset=gnomad_r4",
        "id": "21-43066321-G-A",
        "variant": "21:43066321 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 43066321,
          "referenceAllele": "G",
          "start": 43066320
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43066321G>A",
        "CM000683.2:g.43066321G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14610,
          "referenceAllele": "C",
          "start": 14609
        }
      ],
      "hgvs": [
        "NG_008938.1:g.14610C>T",
        "LRG_777:g.14610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000381231.4:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Arg125Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Arg125Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000344460.5:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000352643.3:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000381225.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000381231.3:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000441030.5:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388235.1:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000388235.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.684C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000470912.5:n.816C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096063",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.373C>T",
        "LRG_777t1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_000062.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132680",
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001171479.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133358",
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001171480.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_011528075.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_011528076.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_011528077.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_011528078.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011528079.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "C",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011528080.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011528081.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011528083.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011528084.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Arg20Trp",
        "hgvsWellDefined": "XP_011528085.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Arg20Trp",
        "hgvsWellDefined": "XP_011528086.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132680",
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "referenceAllele": "C",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001171479.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133358",
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "referenceAllele": "C",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001171480.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043011",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001307227.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024753",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Arg20Trp",
        "hgvsWellDefined": "NP_001308001.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_011528076.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011528079.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Arg20Trp",
        "hgvsWellDefined": "XP_011528085.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_016883980.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_024307904.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Arg142Trp",
        "hgvsWellDefined": "XP_024307905.1:p.Arg142Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Arg20Trp",
        "hgvsWellDefined": "XP_024307906.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Arg20Trp",
        "hgvsWellDefined": "XP_024307907.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Arg20Trp",
        "hgvsWellDefined": "XP_024307908.1:p.Arg20Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.523C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.523C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.523C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096063",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_000062.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Arg125Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Arg125Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133358",
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001171480.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132680",
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001171479.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043011",
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001307227.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}