{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1771621616",
  "communityStandardTitle": [
    "NM_006158.5(NEFL):c.64C= (p.Pro22=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28928910",
        "rs": 28928910
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 24956452,
          "referenceAllele": "G",
          "start": 24956451
        }
      ],
      "hgvs": [
        "NC_000008.11:g.24956452G=",
        "CM000670.2:g.24956452G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 24813966,
          "referenceAllele": "G",
          "start": 24813965
        }
      ],
      "hgvs": [
        "NC_000008.10:g.24813966G=",
        "CM000670.1:g.24813966G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 24869883,
          "referenceAllele": "G",
          "start": 24869882
        }
      ],
      "hgvs": [
        "NC_000008.9:g.24869883G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "hgvs": [
        "NG_008492.1:g.5166C=",
        "LRG_259:g.5166C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000610854.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482169.2:p.Pro22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610854.2:c.64C="
          },
          "RefSeq": {
            "hgvs": "NM_006158.5:c.64C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482169.2:p.Pro22="
          },
          "RefSeq": {
            "hgvs": "NP_006149.2:p.Pro22="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000610854.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482169.1:p.Pro22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 270,
          "referenceAllele": "C",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000615973.1:n.270C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000619417.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483690.1:p.Pro22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829633003",
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NM_006158.4:c.64C=",
        "LRG_259t1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006149.2:p.Pro22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829633003",
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NM_006158.5:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006149.2:p.Pro22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610854.2:c.64C="
          },
          "RefSeq": {
            "hgvs": "NM_006158.5:c.64C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482169.2:p.Pro22="
          },
          "RefSeq": {
            "hgvs": "NP_006149.2:p.Pro22="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}