{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2322767635",
  "communityStandardTitle": [
    "NM_000527.5(LDLR):c.682G= (p.Glu228=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908029",
        "rs": 121908029
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879254640",
        "rs": 879254640
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879254641",
        "rs": 879254641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 11105588,
          "referenceAllele": "G",
          "start": 11105587
        }
      ],
      "hgvs": [
        "NC_000019.10:g.11105588G=",
        "CM000681.2:g.11105588G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 11216264,
          "referenceAllele": "G",
          "start": 11216263
        }
      ],
      "hgvs": [
        "NC_000019.9:g.11216264G=",
        "CM000681.1:g.11216264G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 11077264,
          "referenceAllele": "G",
          "start": 11077263
        }
      ],
      "hgvs": [
        "NC_000019.8:g.11077264G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21208,
          "referenceAllele": "G",
          "start": 21207
        }
      ],
      "hgvs": [
        "NG_009060.1:g.21208G=",
        "LRG_274:g.21208G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.10:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252444.6:p.Glu314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000559340.2:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453696.2:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.2:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453513.2:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.6:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.682G="
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.682G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Glu228="
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Glu228="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000252444.9:c.936G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1803,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000455727.6:c.314-1804G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397829.2:n.314-1804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000535915.5:c.559G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440520.1:p.Glu187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 976,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000545707.5:c.314-977G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437639.1:n.314-977G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000557933.5:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453557.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558013.5:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453346.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000558518.5:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454071.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "ENST00000560467.1:c.282G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825208678",
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.4:c.682G=",
        "LRG_274t1:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826211636",
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.1:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826212521",
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.1:c.559G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Glu187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 1803,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.1:c.314-1804G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:n.314-1804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 976,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.1:c.314-977G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:n.314-977G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.1:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 976,
          "referenceAllele": "G",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528011.1:c.314-977G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526313.1:n.314-977G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_244074.2:n.832G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XM_011528010.2:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526312.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753685.2:n.799G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "XR_001753686.2:n.799G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825208678",
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_000527.5:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000518.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000558518.6:c.682G="
          },
          "RefSeq": {
            "hgvs": "NM_000527.5:c.682G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000454071.1:p.Glu228="
          },
          "RefSeq": {
            "hgvs": "NP_000518.1:p.Glu228="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826211636",
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195798.2:c.682G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182727.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826212521",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195799.2:c.559G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182728.1:p.Glu187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 1803,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195800.2:c.314-1804G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182729.1:n.314-1804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 976,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NM_001195803.2:c.314-977G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182732.1:n.314-977G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679346"
    }
  ],
  "type": "nucleotide"
}