Allele Registry

Canonical Allele Identifier: PA2742004286

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV003602855

ClinVar Variation:

2884406

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Lys802Glu	CA3236167 NM_133433.4:c.2404A>G