Allele Registry

Canonical Allele Identifier: PA2829822309

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000480367

RCV002525957

ClinVar Variation:

424011

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Pro2321Leu	CA16618204 NM_015384.5:c.6962C>T