Canonical Allele Identifier: PA2742004391
Gene: NIPBL HGNC NCBI

Linked Data

ClinVar Variation Id: 2739715
ClinVar RCV Id: RCV003497477

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Glu1515del
CA915940294
NM_133433.4:c.4545_4547del