Allele Registry

Canonical Allele Identifier: PA2580506996

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV002764164

ClinVar Variation:

2402524

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Ala427Pro	CA359486262 NM_133433.4:c.1279G>C