{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123725",
  "communityStandardTitle": [
    "NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29077[alleleid]",
        "alleleId": 29077,
        "preferredName": "NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14038",
        "RCV": [
          "RCV000015083"
        ],
        "variationId": 14038
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.95748156C>A?assembly=hg19",
        "id": "chr5:g.95748156C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.96412452C>A?assembly=hg38",
        "id": "chr5:g.96412452C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852822",
        "rs": 137852822
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-96412452-C-A?dataset=gnomad_r4",
        "id": "5-96412452-C-A",
        "variant": "5:96412452 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96412452,
          "referenceAllele": "C",
          "start": 96412451
        }
      ],
      "hgvs": [
        "NC_000005.10:g.96412452C>A",
        "CM000667.2:g.96412452C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 95748156,
          "referenceAllele": "C",
          "start": 95748155
        }
      ],
      "hgvs": [
        "NC_000005.9:g.95748156C>A",
        "CM000667.1:g.95748156C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 95773912,
          "referenceAllele": "C",
          "start": 95773911
        }
      ],
      "hgvs": [
        "NC_000005.8:g.95773912C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25830,
          "referenceAllele": "G",
          "start": 25829
        }
      ],
      "hgvs": [
        "NG_021161.1:g.25830G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003448"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "ENST00000311106.8:c.748G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308024.2:p.Glu250Ter",
        "hgvsWellDefined": "ENSP00000308024.2:p.Glu250_Asn753delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311106.8:c.748G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000439.5:c.748G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308024.2:p.Glu250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000430.3:p.Glu250Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "ENST00000311106.7:c.748G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308024.2:p.Glu250Ter",
        "hgvsWellDefined": "ENSP00000308024.2:p.Glu250_Asn753delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "ENST00000508626.5:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421600.1:p.Glu203Ter",
        "hgvsWellDefined": "ENSP00000421600.1:p.Glu203_Asn706delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "referenceAllele": "G",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "ENST00000513085.1:n.104G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123726",
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "NM_000439.4:c.748G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000430.3:p.Glu250Ter",
        "hgvsWellDefined": "NP_000430.3:p.Glu250_Asn753delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826128956",
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "NM_001177875.1:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171346.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_001171346.1:p.Glu203_Asn706delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 32800,
          "referenceAllele": "C",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 32799
        }
      ],
      "hgvs": [
        "NR_130776.1:n.354+32800C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123726",
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "NM_000439.5:c.748G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000430.3:p.Glu250Ter",
        "hgvsWellDefined": "NP_000430.3:p.Glu250_Asn753delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311106.8:c.748G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000439.5:c.748G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308024.2:p.Glu250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000430.3:p.Glu250Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826128956",
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "NM_001177875.2:c.607G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171346.1:p.Glu203Ter",
        "hgvsWellDefined": "NP_001171346.1:p.Glu203_Asn706delinsAlaSerSerIleGlyPheAsnProGlyHisValAspIleTyrSerAlaSerTrpGlyProAsnAspAspGlyLysThrValGluGlyProGlyArgLeuAlaGlnLysAlaPheGluTyrGlyValLysGlnGlyArgGlnGlyLysGlySerIlePheValTrpAlaSerGlyAsnGlyGlyArgGlnGlyAspAsnCysAspCysAspGlyTyrThrAspSerIleTyrThrIleSerIleSerSerAlaSerGlnGlnGlyLeuSerProTrpTyrAlaGluLysCysSerSerThrLeuAlaThrSerTyrSerSerGlyAspTyrThrAspGlnArgIleThrSerAlaAspLeuHisAsnAspCysThrGluThrHisThrGlyThrSerAlaSerAlaProLeuAlaAlaGlyIlePheAlaLeuAlaLeuGluAlaAsnProAsnLeuThrTrpArgAspMetGlnHisLeuValValTrpThrSerGluTyrAspProLeuAlaAsnAsnProGlyTrpLysLysAsnGlyAlaGlyLeuMetValAsnSerArgPheGlyPheGlyLeuLeuAsnAlaLysAlaLeuValAspLeuAlaAspProArgThrTrpArgSerValProGluLysLysGluCysValValLysAspAsnAspPheGluProArgAlaLeuLysAlaAsnGlyGluValIleIleGluIleProThrArgAlaCysGluGlyGlnGluAsnAlaIleLysSerLeuGluHisValGlnPheGluAlaThrIleGluTyrSerArgArgGlyAspLeuHisValThrLeuThrSerAlaAlaGlyThrSerThrValLeuLeuAlaGluArgGluArgAspThrSerProAsnGlyPheLysAsnTrpAspPheMetSerValHisThrTrpGlyGluAsnProIleGlyThrTrpThrLeuArgIleThrAspMetSerGlyArgIleGlnAsnGluGlyArgIleValAsnTrpLysLeuIleLeuHisGlyThrSerSerGlnProGluHisMetLysGlnProArgValTyrThrSerTyrAsnThrValGlnAsnAspArgArgGlyValGluLysMetValAspProGlyGluGluGlnProThrGlnGluAsnProLysGluAsnThrLeuValSerLysSerProSerSerSerSerValGlyGlyArgArgAspGluLeuGluGluGlyAlaProSerGlnAlaMetLeuArgLeuLeuGlnSerAlaPheSerLysAsnSerProProLysGlnSerProLysLysSerProSerAlaLysLeuAsnIleProTyrGluAsnPheTyrGluAlaLeuGluLysLeuAsnLysProSerGlnLeuLysAspSerGluAspSerLeuTyrAsnAspTyrValAspValPheTyrAsnThrLysProTyrLysHisArgAspAspArgLeuLeuGlnAlaLeuValAspIleLeuAsnGluGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713535"
    }
  ],
  "type": "nucleotide"
}