{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA113889",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15163[alleleid]",
        "alleleId": 15163,
        "preferredName": "NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/124",
        "RCV": [
          "RCV000000146",
          "RCV000675072",
          "RCV002468955",
          "RCV003597960"
        ],
        "variationId": 124
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43053920A>G?assembly=hg38",
        "id": "chr21:g.43053920A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964968",
        "rs": 121964968
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 43053920,
          "referenceAllele": "A",
          "start": 43053919
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43053920A>G",
        "CM000683.2:g.43053920A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27011,
          "referenceAllele": "T",
          "start": 27010
        }
      ],
      "hgvs": [
        "NG_008938.1:g.27011T>C",
        "LRG_777:g.27011T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Leu539Ser",
        "hgvsWellDefined": "ENSP00000381231.4:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Leu539Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Leu539Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1854,
          "referenceAllele": "T",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Leu539Ser",
        "hgvsWellDefined": "ENSP00000344460.5:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1838,
          "referenceAllele": "T",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Leu539Ser",
        "hgvsWellDefined": "ENSP00000352643.3:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "T",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Leu539Ser",
        "hgvsWellDefined": "ENSP00000381225.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1876,
          "referenceAllele": "T",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Leu539Ser",
        "hgvsWellDefined": "ENSP00000381231.3:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000451248.5:c.408T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "T",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.1927T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 907,
          "referenceAllele": "T",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000462349.5:n.907T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096554",
      "coordinates": [
        {
          "allele": "C",
          "end": 1861,
          "referenceAllele": "T",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.1616T>C",
        "LRG_777t1:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_000062.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133193",
      "coordinates": [
        {
          "allele": "C",
          "end": 1838,
          "referenceAllele": "T",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001171479.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133869",
      "coordinates": [
        {
          "allele": "C",
          "end": 1838,
          "referenceAllele": "T",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001171480.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.1709T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Leu570Ser",
        "hgvsWellDefined": "XP_011528075.1:p.Leu570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.1709T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Leu570Ser",
        "hgvsWellDefined": "XP_011528076.1:p.Leu570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "T",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.1667T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Leu556Ser",
        "hgvsWellDefined": "XP_011528077.1:p.Leu556Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "T",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.1667T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Leu556Ser",
        "hgvsWellDefined": "XP_011528078.1:p.Leu556Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "referenceAllele": "T",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.1658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Leu553Ser",
        "hgvsWellDefined": "XP_011528079.1:p.Leu553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "T",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.1658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Leu553Ser",
        "hgvsWellDefined": "XP_011528080.1:p.Leu553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "T",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.1658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Leu553Ser",
        "hgvsWellDefined": "XP_011528081.1:p.Leu553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "T",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.1658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Leu553Ser",
        "hgvsWellDefined": "XP_011528083.1:p.Leu553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2309,
          "referenceAllele": "T",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.1658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Leu553Ser",
        "hgvsWellDefined": "XP_011528084.1:p.Leu553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1936,
          "referenceAllele": "T",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.1343T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Leu448Ser",
        "hgvsWellDefined": "XP_011528085.1:p.Leu448Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1894,
          "referenceAllele": "T",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.1301T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Leu434Ser",
        "hgvsWellDefined": "XP_011528086.1:p.Leu434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133193",
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001171479.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133869",
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001171480.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024488",
      "coordinates": [
        {
          "allele": "C",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001307227.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827071041",
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "T",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.1301T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Leu434Ser",
        "hgvsWellDefined": "NP_001308001.1:p.Leu434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2029,
          "referenceAllele": "T",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.1709T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Leu570Ser",
        "hgvsWellDefined": "XP_011528076.1:p.Leu570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1808,
          "referenceAllele": "T",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.1658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Leu553Ser",
        "hgvsWellDefined": "XP_011528079.1:p.Leu553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "referenceAllele": "T",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.1343T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Leu448Ser",
        "hgvsWellDefined": "XP_011528085.1:p.Leu448Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Leu539Ser",
        "hgvsWellDefined": "XP_016883980.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2592,
          "referenceAllele": "T",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.1709T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Leu570Ser",
        "hgvsWellDefined": "XP_024307904.1:p.Leu570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2550,
          "referenceAllele": "T",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.1667T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Leu556Ser",
        "hgvsWellDefined": "XP_024307905.1:p.Leu556Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2594,
          "referenceAllele": "T",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.1301T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Leu434Ser",
        "hgvsWellDefined": "XP_024307906.1:p.Leu434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2588,
          "referenceAllele": "T",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.1301T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Leu434Ser",
        "hgvsWellDefined": "XP_024307907.1:p.Leu434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2491,
          "referenceAllele": "T",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.1301T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Leu434Ser",
        "hgvsWellDefined": "XP_024307908.1:p.Leu434Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1995,
          "referenceAllele": "T",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1995T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1920,
          "referenceAllele": "T",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.1920T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2595,
          "referenceAllele": "T",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.2595T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096554",
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_000062.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Leu539Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Leu539Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133869",
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "T",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001171480.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133193",
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "T",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001171479.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024488",
      "coordinates": [
        {
          "allele": "C",
          "end": 1874,
          "referenceAllele": "T",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.1616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Leu539Ser",
        "hgvsWellDefined": "NP_001307227.1:p.Leu539Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}