{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2391101575",
  "communityStandardTitle": [
    "NM_000071.3(CBS):c.1397C= (p.Ser466=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964971",
        "rs": 121964971
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 43058215,
          "referenceAllele": "G",
          "start": 43058214
        }
      ],
      "hgvs": [
        "NC_000021.9:g.43058215G=",
        "CM000683.2:g.43058215G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22716,
          "referenceAllele": "C",
          "start": 22715
        }
      ],
      "hgvs": [
        "NG_008938.1:g.22716C=",
        "LRG_777:g.22716C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.8:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.4:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1397C="
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1397C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Ser466="
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Ser466="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000352178.9:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344460.5:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000359624.7:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352643.3:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398158.5:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381225.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000398165.7:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381231.3:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000430013.1:c.358C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000451248.5:c.147C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000458223.5:c.160C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000461686.5:n.1708C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000462349.5:n.688C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "ENST00000491776.1:n.332C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043397",
      "coordinates": [
        {
          "allele": "C",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.2:c.1397C=",
        "LRG_777t1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133123",
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133798",
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529773.1:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528075.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.1:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529775.1:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528077.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529776.1:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528078.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529778.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528080.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529779.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528081.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529781.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528083.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529782.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528084.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529784.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528086.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133123",
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "C",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.2:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133798",
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "C",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.2:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043258",
      "coordinates": [
        {
          "allele": "C",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.1:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827070858",
      "coordinates": [
        {
          "allele": "C",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001321072.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308001.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529774.2:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528076.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529777.2:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528079.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1680,
          "referenceAllele": "C",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_011529783.2:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528085.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_017028491.2:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883980.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452136.1:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307904.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452137.1:c.1448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307905.1:p.Ser483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452138.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307906.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452139.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307907.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XM_024452140.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307908.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "endIntronDirection": "+",
          "endIntronOffset": 76,
          "referenceAllele": "C",
          "start": 1846,
          "startIntronDirection": "+",
          "startIntronOffset": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754915.1:n.1846+76C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754916.2:n.1701C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_001754917.2:n.1701C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2446,
          "endIntronDirection": "+",
          "endIntronOffset": 76,
          "referenceAllele": "C",
          "start": 2446,
          "startIntronDirection": "+",
          "startIntronOffset": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "XR_002958634.1:n.2446+76C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825043397",
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_000071.3:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000062.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398165.8:c.1397C="
          },
          "RefSeq": {
            "hgvs": "NM_000071.3:c.1397C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381231.4:p.Ser466="
          },
          "RefSeq": {
            "hgvs": "NP_000062.1:p.Ser466="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133798",
      "coordinates": [
        {
          "allele": "C",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133123",
      "coordinates": [
        {
          "allele": "C",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827043258",
      "coordinates": [
        {
          "allele": "C",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.1397C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Ser466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}