Canonical Allele Identifier: PA2580507087
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1745926
ClinVar RCV Id: RCV002338518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Ile1731Thr
CA359487406
NM_133433.4:c.5192T>C