{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363389470",
  "communityStandardTitle": [
    "NM_005527.4(HSPA1L):c.560T>G (p.Leu187Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2796873[alleleid]",
        "alleleId": 2796873,
        "preferredName": "NM_005527.4(HSPA1L):c.560T>G (p.Leu187Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2632432",
        "RCV": [
          "RCV003406145"
        ],
        "variationId": 2632432
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31779190A>C?assembly=hg19",
        "id": "chr6:g.31779190A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31811413A>C?assembly=hg38",
        "id": "chr6:g.31811413A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2481037161",
        "rs": 2481037161
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31811413-A-C?dataset=gnomad_r4",
        "id": "6-31811413-A-C",
        "variant": "6:31811413 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31811413,
          "referenceAllele": "A",
          "start": 31811412
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31811413A>C",
        "CM000668.2:g.31811413A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31779190,
          "referenceAllele": "A",
          "start": 31779189
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31779190A>C",
        "CM000668.1:g.31779190A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31887169,
          "referenceAllele": "A",
          "start": 31887168
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31887169A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8646,
          "referenceAllele": "T",
          "start": 8645
        }
      ],
      "hgvs": [
        "NG_011855.1:g.8646T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 968,
          "referenceAllele": "T",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "ENST00000375654.5:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364805.4:p.Leu187Ter",
        "hgvsWellDefined": "ENSP00000364805.4:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751647",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375654.5:c.560T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005527.4:c.560T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364805.4:p.Leu187Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005518.3:p.Leu187Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "T",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "ENST00000375654.4:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364805.4:p.Leu187Ter",
        "hgvsWellDefined": "ENSP00000364805.4:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741921414",
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "T",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "NM_005527.3:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005518.3:p.Leu187Ter",
        "hgvsWellDefined": "NP_005518.3:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "T",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "XM_005249070.3:c.752T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249127.1:p.Leu251Ter",
        "hgvsWellDefined": "XP_005249127.1:p.Leu251_Asp705delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "T",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "XM_005249071.1:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249128.1:p.Leu187Ter",
        "hgvsWellDefined": "XP_005249128.1:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "T",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "XM_005249073.2:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249130.1:p.Leu187Ter",
        "hgvsWellDefined": "XP_005249130.1:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "T",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "XM_011514566.1:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512868.1:p.Leu187Ter",
        "hgvsWellDefined": "XP_011512868.1:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741921414",
      "coordinates": [
        {
          "allele": "G",
          "end": 968,
          "referenceAllele": "T",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005234",
      "geneNCBI_id": 3305,
      "geneSymbol": "HSPA1L",
      "hgvs": [
        "NM_005527.4:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005518.3:p.Leu187Ter",
        "hgvsWellDefined": "NP_005518.3:p.Leu187_Asp641delinsAspLysGlyGlyGlnGlyGluArgHisValLeuIlePheAspLeuGlyGlyGlyThrPheAspValSerIleLeuThrIleAspAspGlyIlePheGluValLysAlaThrAlaGlyAspThrHisLeuGlyGlyGluAspPheAspAsnArgLeuValSerHisPheValGluGluPheLysArgLysHisLysLysAspIleSerGlnAsnLysArgAlaValArgArgLeuArgThrAlaCysGluArgAlaLysArgThrLeuSerSerSerThrGlnAlaAsnLeuGluIleAspSerLeuTyrGluGlyIleAspPheTyrThrSerIleThrArgAlaArgPheGluGluLeuCysAlaAspLeuPheArgGlyThrLeuGluProValGluLysAlaLeuArgAspAlaLysMetAspLysAlaLysIleHisAspIleValLeuValGlyGlySerThrArgIleProLysValGlnArgLeuLeuGlnAspTyrPheAsnGlyArgAspLeuAsnLysSerIleAsnProAspGluAlaValAlaTyrGlyAlaAlaValGlnAlaAlaIleLeuMetGlyAspLysSerGluLysValGlnAspLeuLeuLeuLeuAspValAlaProLeuSerLeuGlyLeuGluThrAlaGlyGlyValMetThrAlaLeuIleLysArgAsnSerThrIleProThrLysGlnThrGlnIlePheThrThrTyrSerAspAsnGlnProGlyValLeuIleGlnValTyrGluGlyGluArgAlaMetThrLysAspAsnAsnLeuLeuGlyArgPheAspLeuThrGlyIleProProAlaProArgGlyValProGlnIleGluValThrPheAspIleAspAlaAsnGlyIleLeuAsnValThrAlaThrAspLysSerThrGlyLysValAsnLysIleThrIleThrAsnAspLysGlyArgLeuSerLysGluGluIleGluArgMetValLeuAspAlaGluLysTyrLysAlaGluAspGluValGlnArgGluLysIleAlaAlaLysAsnAlaLeuGluSerTyrAlaPheAsnMetLysSerValValSerAspGluGlyLeuLysGlyLysIleSerGluSerAspLysAsnLysIleLeuAspLysCysAsnGluLeuLeuSerTrpLeuGluValAsnGlnLeuAlaGluLysAspGluPheAspHisLysArgLysGluLeuGluGlnMetCysAsnProIleIleThrLysLeuTyrGlnGlyGlyCysThrGlyProAlaCysGlyThrGlyTyrValProGlyArgProAlaThrGlyProThrIleGluGluValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667013",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375654.5:c.560T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005527.4:c.560T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364805.4:p.Leu187Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005518.3:p.Leu187Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}