Allele Registry

Canonical Allele Identifier: PA2742004289

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV003604258

ClinVar Variation:

2816488

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Ser811Tyr	CA359501211 NM_133433.4:c.2432C>A