{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA113895",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.502G>A (p.Val168Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15166[alleleid]",
        "alleleId": 15166,
        "preferredName": "NM_000071.3(CBS):c.502G>A (p.Val168Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127",
        "RCV": [
          "RCV000000150",
          "RCV000179250",
          "RCV000458159",
          "RCV002227959",
          "RCV002310622",
          "RCV002265542",
          "RCV004540986"
        ],
        "variationId": 127
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43065645C>T?assembly=hg38",
        "id": "chr21:g.43065645C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964970",
        "rs": 121964970
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-43065645-C-T?dataset=gnomad_r4",
        "id": "21-43065645-C-T",
        "variant": "21:43065645 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43065645,
          "referenceAllele": "C",
          "start": 43065644
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43065645C>T",
        "CM000683.2:g.43065645C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15286,
          "referenceAllele": "G",
          "start": 15285
        }
      ],
      "hgvs": [
        "NG_008938.1:g.15286G>A",
        "LRG_777:g.15286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Val168Met",
        "hgvsWellDefined": "ENSP00000381231.4:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.502G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.502G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Val168Met"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Val168Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Val168Met",
        "hgvsWellDefined": "ENSP00000344460.5:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Val168Met",
        "hgvsWellDefined": "ENSP00000352643.3:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Val168Met",
        "hgvsWellDefined": "ENSP00000381225.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Val168Met",
        "hgvsWellDefined": "ENSP00000381231.3:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000441030.5:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388235.1:p.Val168Met",
        "hgvsWellDefined": "ENSP00000388235.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.813G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096799",
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.502G>A",
        "LRG_777t1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Val168Met",
        "hgvsWellDefined": "NP_000062.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132745",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Val168Met",
        "hgvsWellDefined": "NP_001171479.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133424",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Val168Met",
        "hgvsWellDefined": "NP_001171480.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Val185Met",
        "hgvsWellDefined": "XP_011528075.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Val185Met",
        "hgvsWellDefined": "XP_011528076.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Val185Met",
        "hgvsWellDefined": "XP_011528077.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Val185Met",
        "hgvsWellDefined": "XP_011528078.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Val168Met",
        "hgvsWellDefined": "XP_011528079.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Val168Met",
        "hgvsWellDefined": "XP_011528080.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Val168Met",
        "hgvsWellDefined": "XP_011528081.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Val168Met",
        "hgvsWellDefined": "XP_011528083.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "referenceAllele": "G",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Val168Met",
        "hgvsWellDefined": "XP_011528084.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Val63Met",
        "hgvsWellDefined": "XP_011528085.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Val63Met",
        "hgvsWellDefined": "XP_011528086.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132745",
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Val168Met",
        "hgvsWellDefined": "NP_001171479.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133424",
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Val168Met",
        "hgvsWellDefined": "NP_001171480.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043076",
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Val168Met",
        "hgvsWellDefined": "NP_001307227.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024774",
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Val63Met",
        "hgvsWellDefined": "NP_001308001.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Val185Met",
        "hgvsWellDefined": "XP_011528076.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Val168Met",
        "hgvsWellDefined": "XP_011528079.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Val63Met",
        "hgvsWellDefined": "XP_011528085.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Val168Met",
        "hgvsWellDefined": "XP_016883980.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Val185Met",
        "hgvsWellDefined": "XP_024307904.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Val185Met",
        "hgvsWellDefined": "XP_024307905.1:p.Val185Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Val63Met",
        "hgvsWellDefined": "XP_024307906.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "G",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Val63Met",
        "hgvsWellDefined": "XP_024307907.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Val63Met",
        "hgvsWellDefined": "XP_024307908.1:p.Val63Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096799",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Val168Met",
        "hgvsWellDefined": "NP_000062.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.502G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.502G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Val168Met"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Val168Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133424",
      "coordinates": [
        {
          "allele": "A",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Val168Met",
        "hgvsWellDefined": "NP_001171480.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826132745",
      "coordinates": [
        {
          "allele": "A",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Val168Met",
        "hgvsWellDefined": "NP_001171479.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043076",
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Val168Met",
        "hgvsWellDefined": "NP_001307227.1:p.Val168Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}