Allele Registry

Canonical Allele Identifier: PA2580507035

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV002722493

ClinVar Variation:

2225078

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Glu812Asp	CA359501228 NM_133433.4:c.2436G>C CA359501229 NM_133433.4:c.2436G>T