{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1575514",
  "communityStandardTitle": [
    "NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1055229[alleleid]",
        "alleleId": 1055229,
        "preferredName": "NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1065949",
        "RCV": [
          "RCV001376805",
          "RCV002499772",
          "RCV003469619"
        ],
        "variationId": 1065949
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-27534800-A-C",
        "id": "2-27534800-A-C",
        "variant": "2:27534800 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27534800A>C?assembly=hg19",
        "id": "chr2:g.27534800A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27311932A>C?assembly=hg38",
        "id": "chr2:g.27311932A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763400903",
        "rs": 763400903
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27534800-A-C?dataset=gnomad_r2_1",
        "id": "2-27534800-A-C",
        "variant": "2:27534800 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27311932-A-C?dataset=gnomad_r3",
        "id": "2-27311932-A-C",
        "variant": "2:27311932 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27311932-A-C?dataset=gnomad_r4",
        "id": "2-27311932-A-C",
        "variant": "2:27311932 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 27311932,
          "referenceAllele": "A",
          "start": 27311931
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27311932A>C",
        "CM000664.2:g.27311932A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 27534800,
          "referenceAllele": "A",
          "start": 27534799
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27534800A>C",
        "CM000664.1:g.27534800A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 27388304,
          "referenceAllele": "A",
          "start": 27388303
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27388304A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15632,
          "referenceAllele": "T",
          "start": 15631
        }
      ],
      "hgvs": [
        "NG_008075.1:g.15632T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1331,
          "referenceAllele": "T",
          "start": 1330
        }
      ],
      "hgvs": [
        "NG_033055.1:g.1331T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.6:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:p.Leu143Ter",
        "hgvsWellDefined": "ENSP00000369383.1:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.428T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.428T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Leu143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Leu143Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000233545.6:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233545.2:p.Leu143Ter",
        "hgvsWellDefined": "ENSP00000233545.2:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1490,
          "referenceAllele": "T",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000357186.10:c.260T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349713.6:p.Leu87Ter",
        "hgvsWellDefined": "ENSP00000349713.6:p.Leu87_Leu120delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.5:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:p.Leu143Ter",
        "hgvsWellDefined": "ENSP00000369383.1:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "endIntronDirection": "+",
          "endIntronOffset": 282,
          "referenceAllele": "T",
          "start": 416,
          "startIntronDirection": "+",
          "startIntronOffset": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402310.5:c.408+282T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383955.1:n.408+282T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 562,
          "referenceAllele": "T",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402722.5:c.*40+562T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386000.1:n.*40+562T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "T",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000403262.6:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385671.1:p.Leu143Ter",
        "hgvsWellDefined": "ENSP00000385671.1:p.Leu143_Leu171delinsAlaAsnPheTyrLeuValProLeuHisTyrArgGluAspProAlaSerThrThrLeuValSerIleProProGluLeuArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "referenceAllele": "T",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405076.5:c.239T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385175.1:p.Leu80Ter",
        "hgvsWellDefined": "ENSP00000385175.1:p.Leu80_Leu113delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405983.5:c.473T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384586.1:p.Leu158Ter",
        "hgvsWellDefined": "ENSP00000384586.1:p.Leu158_Leu191delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "T",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000415514.5:c.*229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388043.1:n.*229T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "T",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000426513.6:c.*93T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403824.2:n.*93T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "T",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000430991.5:c.262T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "T",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000616707.1:n.1456T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "T",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000617583.4:n.963T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "T",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000620797.4:n.101T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "T",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621183.4:n.731T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499261166",
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.4:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Leu143Ter",
        "hgvsWellDefined": "NP_002428.1:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.2:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:p.Leu143Ter",
        "hgvsWellDefined": "XP_005264383.1:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3027,
          "referenceAllele": "T",
          "start": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264327.2:c.269T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264384.1:p.Leu90Ter",
        "hgvsWellDefined": "XP_005264384.1:p.Leu90_Leu123delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "T",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.2:c.380T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Leu127Ter",
        "hgvsWellDefined": "XP_006712084.1:p.Leu127_Leu160delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.4:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:p.Leu143Ter",
        "hgvsWellDefined": "XP_005264383.1:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "T",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.3:c.380T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Leu127Ter",
        "hgvsWellDefined": "XP_006712084.1:p.Leu127_Leu160delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3713,
          "referenceAllele": "T",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004150.1:c.410T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859639.1:p.Leu137Ter",
        "hgvsWellDefined": "XP_016859639.1:p.Leu137_Leu170delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "T",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004151.1:c.380T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859640.1:p.Leu127Ter",
        "hgvsWellDefined": "XP_016859640.1:p.Leu127_Leu160delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "T",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.269T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:p.Leu90Ter",
        "hgvsWellDefined": "XP_016859641.1:p.Leu90_Leu123delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "referenceAllele": "T",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.380T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:p.Leu127Ter",
        "hgvsWellDefined": "XP_024308681.1:p.Leu127_Leu160delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499261166",
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.428T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Leu143Ter",
        "hgvsWellDefined": "NP_002428.1:p.Leu143_Leu176delinsAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.428T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.428T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Leu143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Leu143Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}