Allele Registry

Canonical Allele Identifier: PA239389

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000146540

RCV000254129

RCV000513777

RCV002316933

ClinVar Variation:

159051

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Arg765Lys	CA239387 NM_133433.4:c.2294G>A