Allele Registry

Canonical Allele Identifier: PA2742004306

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV003499715

ClinVar Variation:

2728450

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Arg894Cys	CA3236210 NM_133433.4:c.2680C>T