Allele Registry

Canonical Allele Identifier: PA267543

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000086381

RCV003236776

RCV004019588

ClinVar Variation:

99932

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Arg1789Gln	CA267541 NM_133433.4:c.5366G>A