Allele Registry

Canonical Allele Identifier: PA271976

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000146521

ClinVar Variation:

159036

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Lys493Glu	CA271974 NM_133433.4:c.1477A>G