{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580060904",
  "communityStandardTitle": [
    "NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1932528[alleleid]",
        "alleleId": 1932528,
        "preferredName": "NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2194685",
        "RCV": [
          "RCV002647482"
        ],
        "variationId": 2194685
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2522898686",
        "rs": 2522898686
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "AA",
          "end": 11796321,
          "referenceAllele": "GG",
          "start": 11796319
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11796320_11796321delinsAA",
        "CM000663.2:g.11796320_11796321delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "AA",
          "end": 11856378,
          "referenceAllele": "GG",
          "start": 11856376
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11856377_11856378delinsAA",
        "CM000663.1:g.11856377_11856378delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "AA",
          "end": 11778965,
          "referenceAllele": "GG",
          "start": 11778963
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11778964_11778965delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 14784,
          "referenceAllele": "CC",
          "start": 14782
        }
      ],
      "hgvs": [
        "NG_013351.1:g.14783_14784delinsTT",
        "LRG_726:g.14783_14784delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 852,
          "referenceAllele": "CC",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376486.3:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365669.3:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000365669.3:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751771"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1841,
          "referenceAllele": "CC",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.6:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Ala263Val",
        "hgvsWellDefined": "ENSP00000365770.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751786"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 756,
          "referenceAllele": "CC",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.9:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000365775.3:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.665_666delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.665_666delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ala222Val"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Ala222Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2116,
          "referenceAllele": "CC",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.6:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000365777.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751789"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 798,
          "referenceAllele": "CC",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000423400.7:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398908.3:p.Ala262Val",
        "hgvsWellDefined": "ENSP00000398908.3:p.Ala262Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754979"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 933,
          "referenceAllele": "CC",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641407.1:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493098.1:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000493098.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766063"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 794,
          "referenceAllele": "CC",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641446.1:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493262.1:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000493262.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766088"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 971,
          "referenceAllele": "CC",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641721.1:n.644-973_644-972delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766290"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1008,
          "referenceAllele": "CC",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641747.1:c.*177_*178delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493116.1:n.*177_*178delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766307"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 801,
          "referenceAllele": "CC",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641759.1:n.800_801delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766315"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 949,
          "referenceAllele": "CC",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641805.1:n.948_949delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766348"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 226,
          "referenceAllele": "CC",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641820.1:c.-71_-70delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492937.1:n.-71_-70delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766361"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 789,
          "referenceAllele": "CC",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376583.7:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365767.3:p.Ala263Val",
        "hgvsWellDefined": "ENSP00000365767.3:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271231"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1841,
          "referenceAllele": "CC",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.5:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Ala263Val",
        "hgvsWellDefined": "ENSP00000365770.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271232"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 850,
          "referenceAllele": "CC",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.7:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000365775.3:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271234"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 795,
          "referenceAllele": "CC",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.5:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Ala222Val",
        "hgvsWellDefined": "ENSP00000365777.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170992",
      "coordinates": [
        {
          "allele": "TT",
          "end": 895,
          "referenceAllele": "CC",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.4:c.665_666delinsTT",
        "LRG_726t1:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ala222Val",
        "hgvsWellDefined": "NP_005948.3:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031008"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1732,
          "referenceAllele": "CC",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263458.2:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263515.1:p.Ala263Val",
        "hgvsWellDefined": "XP_005263515.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063811"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1337,
          "referenceAllele": "CC",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.3:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Ala222Val",
        "hgvsWellDefined": "XP_005263517.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063812"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1205,
          "referenceAllele": "CC",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263461.3:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263518.1:p.Ala222Val",
        "hgvsWellDefined": "XP_005263518.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063813"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 793,
          "referenceAllele": "CC",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.3:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Ala222Val",
        "hgvsWellDefined": "XP_005263519.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063814"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 912,
          "referenceAllele": "CC",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.2:c.419_420delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:p.Ala140Val",
        "hgvsWellDefined": "XP_005263520.1:p.Ala140Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063815"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1729,
          "referenceAllele": "CC",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.1:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Ala262Val",
        "hgvsWellDefined": "XP_011539797.1:p.Ala262Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108432"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1732,
          "referenceAllele": "CC",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.1:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Ala263Val",
        "hgvsWellDefined": "XP_011539798.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027994",
      "coordinates": [
        {
          "allele": "TT",
          "end": 952,
          "referenceAllele": "CC",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.1:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ala263Val",
        "hgvsWellDefined": "NP_001317287.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516743"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1282,
          "referenceAllele": "CC",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.5:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Ala222Val",
        "hgvsWellDefined": "XP_005263517.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535677"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 783,
          "referenceAllele": "CC",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.4:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Ala222Val",
        "hgvsWellDefined": "XP_005263519.1:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535678"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 912,
          "referenceAllele": "CC",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.4:c.419_420delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:p.Ala140Val",
        "hgvsWellDefined": "XP_005263520.1:p.Ala140Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535679"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1533,
          "referenceAllele": "CC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.3:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Ala262Val",
        "hgvsWellDefined": "XP_011539797.1:p.Ala262Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554458"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 812,
          "referenceAllele": "CC",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.3:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Ala263Val",
        "hgvsWellDefined": "XP_011539798.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554459"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 812,
          "referenceAllele": "CC",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_017001328.2:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856817.1:p.Ala263Val",
        "hgvsWellDefined": "XP_016856817.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557530"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 818,
          "referenceAllele": "CC",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_024447198.1:c.419_420delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302966.1:p.Ala140Val",
        "hgvsWellDefined": "XP_024302966.1:p.Ala140Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580792"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1533,
          "referenceAllele": "CC",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.1532_1533delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170992",
      "coordinates": [
        {
          "allele": "TT",
          "end": 756,
          "referenceAllele": "CC",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.665_666delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ala222Val",
        "hgvsWellDefined": "NP_005948.3:p.Ala222Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.665_666delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.665_666delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ala222Val"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Ala222Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027994",
      "coordinates": [
        {
          "allele": "TT",
          "end": 812,
          "referenceAllele": "CC",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.788_789delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ala263Val",
        "hgvsWellDefined": "NP_001317287.1:p.Ala263Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}