Allele Registry

Canonical Allele Identifier: PA2742004301

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV003399768

ClinVar Variation:

2629004

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Glu867Lys	CA117044849 NM_133433.4:c.2599G>A