{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144318",
  "communityStandardTitle": [
    "NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71029[alleleid]",
        "alleleId": 71029,
        "preferredName": "NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56390",
        "RCV": [
          "RCV000049803"
        ],
        "variationId": 56390
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.136558209C>A?assembly=hg19",
        "id": "chr2:g.136558209C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135800639C>A?assembly=hg38",
        "id": "chr2:g.135800639C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833835",
        "rs": 386833835
      }
    ]
  },
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    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
          "start": 135800638
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      ],
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        "NC_000002.12:g.135800639C>A",
        "CM000664.2:g.135800639C>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 136558209,
          "referenceAllele": "C",
          "start": 136558208
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      ],
      "hgvs": [
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        "CM000664.1:g.136558209C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 136274679,
          "referenceAllele": "C",
          "start": 136274678
        }
      ],
      "hgvs": [
        "NC_000002.10:g.136274679C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59531,
          "referenceAllele": "G",
          "start": 59530
        }
      ],
      "hgvs": [
        "NG_008104.2:g.59531G>T",
        "LRG_338:g.59531G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000849"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4849,
          "referenceAllele": "G",
          "start": 4848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000264162.7:c.4834G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264162.2:p.Glu1612Ter",
        "hgvsWellDefined": "ENSP00000264162.2:p.Glu1612_Phe1927delinsAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000264162.7:c.4834G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002299.4:c.4834G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264162.2:p.Glu1612Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002290.2:p.Glu1612Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2959,
          "endIntronDirection": "-",
          "endIntronOffset": 2500,
          "referenceAllele": "G",
          "start": 2959,
          "startIntronDirection": "-",
          "startIntronOffset": 2501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "ENST00000452974.1:c.2960-2501G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391231.1:n.2960-2501G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144320",
      "coordinates": [
        {
          "allele": "T",
          "end": 4845,
          "referenceAllele": "G",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.2:c.4834G>T",
        "LRG_338t1:c.4834G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Glu1612Ter",
        "hgvsWellDefined": "NP_002290.2:p.Glu1612_Phe1927delinsAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144320",
      "coordinates": [
        {
          "allele": "T",
          "end": 4845,
          "referenceAllele": "G",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.3:c.4834G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Glu1612Ter",
        "hgvsWellDefined": "NP_002290.2:p.Glu1612_Phe1927delinsAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4860,
          "referenceAllele": "G",
          "start": 4859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "XM_017004088.2:c.4834G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859577.1:p.Glu1612Ter",
        "hgvsWellDefined": "XP_016859577.1:p.Glu1612_Ser1706delinsAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144320",
      "coordinates": [
        {
          "allele": "T",
          "end": 4849,
          "referenceAllele": "G",
          "start": 4848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006530",
      "geneNCBI_id": 3938,
      "geneSymbol": "LCT",
      "hgvs": [
        "NM_002299.4:c.4834G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002290.2:p.Glu1612Ter",
        "hgvsWellDefined": "NP_002290.2:p.Glu1612_Phe1927delinsAspValGluAlaAlaArgArgTyrValGlnPheMetGlyGlyTrpPheAlaHisProIlePheLysAsnGlyAspTyrAsnGluValMetLysThrArgIleArgAspArgSerLeuAlaAlaGlyLeuAsnLysSerArgLeuProGluPheThrGluSerGluLysArgArgIleAsnGlyThrTyrAspPhePheGlyPheAsnHisTyrThrThrValLeuAlaTyrAsnLeuAsnTyrAlaThrAlaIleSerSerPheAspAlaAspArgGlyValAlaSerIleAlaAspArgSerTrpProAspSerGlySerPheTrpLeuLysMetThrProPheGlyPheArgArgIleLeuAsnTrpLeuLysGluGluTyrAsnAspProProIleTyrValThrGluAsnGlyValSerGlnArgGluGluThrAspLeuAsnAspThrAlaArgIleTyrTyrLeuArgThrTyrIleAsnGluAlaLeuLysAlaValGlnAspLysValAspLeuArgGlyTyrThrValTrpSerAlaMetAspAsnPheGluTrpAlaThrGlyPheSerGluArgPheGlyLeuHisPheValAsnTyrSerAspProSerLeuProArgIleProLysAlaSerAlaLysPheTyrAlaSerValValArgCysAsnGlyPheProAspProAlaThrGlyProHisAlaCysLeuHisGlnProAspAlaGlyProThrIleSerProValArgGlnGluGluValGlnPheLeuGlyLeuMetLeuGlyThrThrGluAlaGlnThrAlaLeuTyrValLeuPheSerLeuValLeuLeuGlyValCysGlyLeuAlaPheLeuSerTyrLysTyrCysLysArgSerLysGlnGlyLysThrGlnArgSerGlnGlnGluLeuSerProValSerSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264162.7:c.4834G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002299.4:c.4834G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264162.2:p.Glu1612Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002290.2:p.Glu1612Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}