Allele Registry

Canonical Allele Identifier: PA2499296533

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV001301016

ClinVar Variation:

1004327

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Glu778Gln	CA359500658 NM_133433.4:c.2332G>C