{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1771657810",
  "communityStandardTitle": [
    "NM_006158.5(NEFL):c.794A= (p.Tyr265=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777880",
        "rs": 587777880
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 24955722,
          "referenceAllele": "T",
          "start": 24955721
        }
      ],
      "hgvs": [
        "NC_000008.11:g.24955722T=",
        "CM000670.2:g.24955722T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 24813236,
          "referenceAllele": "T",
          "start": 24813235
        }
      ],
      "hgvs": [
        "NC_000008.10:g.24813236T=",
        "CM000670.1:g.24813236T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 24869153,
          "referenceAllele": "T",
          "start": 24869152
        }
      ],
      "hgvs": [
        "NC_000008.9:g.24869153T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5896,
          "referenceAllele": "A",
          "start": 5895
        }
      ],
      "hgvs": [
        "NG_008492.1:g.5896A=",
        "LRG_259:g.5896A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000610854.2:c.794A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482169.2:p.Tyr265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610854.2:c.794A="
          },
          "RefSeq": {
            "hgvs": "NM_006158.5:c.794A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482169.2:p.Tyr265="
          },
          "RefSeq": {
            "hgvs": "NP_006149.2:p.Tyr265="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "A",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000610854.1:c.794A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482169.1:p.Tyr265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "A",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000615973.1:n.1000A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "endIntronDirection": "-",
          "endIntronOffset": 77,
          "referenceAllele": "A",
          "start": 689,
          "startIntronDirection": "-",
          "startIntronOffset": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "ENST00000619417.1:c.593-78A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483690.1:n.593-78A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074801961",
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "A",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NM_006158.4:c.794A=",
        "LRG_259t1:c.794A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006149.2:p.Tyr265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074801961",
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NM_006158.5:c.794A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006149.2:p.Tyr265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610854.2:c.794A="
          },
          "RefSeq": {
            "hgvs": "NM_006158.5:c.794A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482169.2:p.Tyr265="
          },
          "RefSeq": {
            "hgvs": "NP_006149.2:p.Tyr265="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}