{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362828655",
  "communityStandardTitle": [
    "NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016698[alleleid]",
        "alleleId": 1016698,
        "preferredName": "NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029356",
        "RCV": [
          "RCV001330611"
        ],
        "variationId": 1029356
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.18122470C>T?assembly=hg19",
        "id": "chr6:g.18122470C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.18122239C>T?assembly=hg38",
        "id": "chr6:g.18122239C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1783750860",
        "rs": 1783750860
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 18122239,
          "referenceAllele": "C",
          "start": 18122238
        }
      ],
      "hgvs": [
        "NC_000006.12:g.18122239C>T",
        "CM000668.2:g.18122239C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 18122470,
          "referenceAllele": "C",
          "start": 18122469
        }
      ],
      "hgvs": [
        "NC_000006.11:g.18122470C>T",
        "CM000668.1:g.18122470C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 18230449,
          "referenceAllele": "C",
          "start": 18230448
        }
      ],
      "hgvs": [
        "NC_000006.10:g.18230449C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5382,
          "referenceAllele": "G",
          "start": 5381
        }
      ],
      "hgvs": [
        "NG_016750.1:g.5382G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003275"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "ENST00000340650.6:c.368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345464.3:p.Trp123Ter",
        "hgvsWellDefined": "ENSP00000345464.3:p.Trp123_Gly395delinsGlyThrLeuValAsnProThrGlyLeuAlaLeuCysProLysThrGlyArgValValValValHisAspGlyArgArgArgValLysIlePheAspSerGlyGlyGlyCysAlaHisGlnPheGlyGluLysGlyAspAlaAlaGlnAspIleArgTyrProValAspValThrIleThrAsnAspCysHisValValValThrAspAlaGlyAspArgSerIleLysValPheAspPhePheGlyGlnIleLysLeuValIleGlyGlyGlnPheSerLeuProTrpGlyValGluThrThrProGlnAsnGlyIleValValThrAspAlaGluAlaGlySerLeuHisLeuLeuAspValAspPheAlaGluGlyValLeuArgArgThrGluArgLeuGlnAlaHisLeuCysAsnProArgGlyValAlaValSerTrpLeuThrGlyAlaIleAlaValLeuGluHisProLeuAlaLeuGlyThrGlyValCysSerThrArgValLysValPheSerSerSerMetGlnLeuValGlyGlnValAspThrPheGlyLeuSerLeuTyrPheProSerLysIleThrAlaSerAlaValThrPheAspHisGlnGlyAsnValIleValAlaAspThrSerGlyProAlaIleLeuCysLeuGlyLysProGluGluPheProValProLysProMetValThrHisGlyLeuSerHisProValAlaLeuThrPheThrLysGluAsnSerLeuLeuValLeuAspThrAlaSerHisSerIleLysValTyrLysValAspTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340650.6:c.368G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198586.3:c.368G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345464.3:p.Trp123Ter"
          },
          "RefSeq": {
            "hgvs": "NP_940988.2:p.Trp123Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "ENST00000340650.4:c.368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345464.3:p.Trp123Ter",
        "hgvsWellDefined": "ENSP00000345464.3:p.Trp123_Gly395delinsGlyThrLeuValAsnProThrGlyLeuAlaLeuCysProLysThrGlyArgValValValValHisAspGlyArgArgArgValLysIlePheAspSerGlyGlyGlyCysAlaHisGlnPheGlyGluLysGlyAspAlaAlaGlnAspIleArgTyrProValAspValThrIleThrAsnAspCysHisValValValThrAspAlaGlyAspArgSerIleLysValPheAspPhePheGlyGlnIleLysLeuValIleGlyGlyGlnPheSerLeuProTrpGlyValGluThrThrProGlnAsnGlyIleValValThrAspAlaGluAlaGlySerLeuHisLeuLeuAspValAspPheAlaGluGlyValLeuArgArgThrGluArgLeuGlnAlaHisLeuCysAsnProArgGlyValAlaValSerTrpLeuThrGlyAlaIleAlaValLeuGluHisProLeuAlaLeuGlyThrGlyValCysSerThrArgValLysValPheSerSerSerMetGlnLeuValGlyGlnValAspThrPheGlyLeuSerLeuTyrPheProSerLysIleThrAlaSerAlaValThrPheAspHisGlnGlyAsnValIleValAlaAspThrSerGlyProAlaIleLeuCysLeuGlyLysProGluGluPheProValProLysProMetValThrHisGlyLeuSerHisProValAlaLeuThrPheThrLysGluAsnSerLeuLeuValLeuAspThrAlaSerHisSerIleLysValTyrLysValAspTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499303975",
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "NM_198586.2:c.368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_940988.2:p.Trp123Ter",
        "hgvsWellDefined": "NP_940988.2:p.Trp123_Gly395delinsGlyThrLeuValAsnProThrGlyLeuAlaLeuCysProLysThrGlyArgValValValValHisAspGlyArgArgArgValLysIlePheAspSerGlyGlyGlyCysAlaHisGlnPheGlyGluLysGlyAspAlaAlaGlnAspIleArgTyrProValAspValThrIleThrAsnAspCysHisValValValThrAspAlaGlyAspArgSerIleLysValPheAspPhePheGlyGlnIleLysLeuValIleGlyGlyGlnPheSerLeuProTrpGlyValGluThrThrProGlnAsnGlyIleValValThrAspAlaGluAlaGlySerLeuHisLeuLeuAspValAspPheAlaGluGlyValLeuArgArgThrGluArgLeuGlnAlaHisLeuCysAsnProArgGlyValAlaValSerTrpLeuThrGlyAlaIleAlaValLeuGluHisProLeuAlaLeuGlyThrGlyValCysSerThrArgValLysValPheSerSerSerMetGlnLeuValGlyGlnValAspThrPheGlyLeuSerLeuTyrPheProSerLysIleThrAlaSerAlaValThrPheAspHisGlnGlyAsnValIleValAlaAspThrSerGlyProAlaIleLeuCysLeuGlyLysProGluGluPheProValProLysProMetValThrHisGlyLeuSerHisProValAlaLeuThrPheThrLysGluAsnSerLeuLeuValLeuAspThrAlaSerHisSerIleLysValTyrLysValAspTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499303975",
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021576",
      "geneNCBI_id": 378884,
      "geneSymbol": "NHLRC1",
      "hgvs": [
        "NM_198586.3:c.368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_940988.2:p.Trp123Ter",
        "hgvsWellDefined": "NP_940988.2:p.Trp123_Gly395delinsGlyThrLeuValAsnProThrGlyLeuAlaLeuCysProLysThrGlyArgValValValValHisAspGlyArgArgArgValLysIlePheAspSerGlyGlyGlyCysAlaHisGlnPheGlyGluLysGlyAspAlaAlaGlnAspIleArgTyrProValAspValThrIleThrAsnAspCysHisValValValThrAspAlaGlyAspArgSerIleLysValPheAspPhePheGlyGlnIleLysLeuValIleGlyGlyGlnPheSerLeuProTrpGlyValGluThrThrProGlnAsnGlyIleValValThrAspAlaGluAlaGlySerLeuHisLeuLeuAspValAspPheAlaGluGlyValLeuArgArgThrGluArgLeuGlnAlaHisLeuCysAsnProArgGlyValAlaValSerTrpLeuThrGlyAlaIleAlaValLeuGluHisProLeuAlaLeuGlyThrGlyValCysSerThrArgValLysValPheSerSerSerMetGlnLeuValGlyGlnValAspThrPheGlyLeuSerLeuTyrPheProSerLysIleThrAlaSerAlaValThrPheAspHisGlnGlyAsnValIleValAlaAspThrSerGlyProAlaIleLeuCysLeuGlyLysProGluGluPheProValProLysProMetValThrHisGlyLeuSerHisProValAlaLeuThrPheThrLysGluAsnSerLeuLeuValLeuAspThrAlaSerHisSerIleLysValTyrLysValAspTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340650.6:c.368G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198586.3:c.368G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345464.3:p.Trp123Ter"
          },
          "RefSeq": {
            "hgvs": "NP_940988.2:p.Trp123Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}