Allele Registry

Canonical Allele Identifier: PA2580507034

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV002861339

ClinVar Variation:

2014126

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Ser809Phe	CA359501197 NM_133433.4:c.2426C>T