Allele Registry

Canonical Allele Identifier: PA645467049

Gene: NIPBL HGNC NCBI

ClinVar Allele:

369877

ClinVar RCV:

RCV000434028

ClinVar Variation:

391480

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Tyr2282Cys	CA16605364 NM_133433.4:c.6845A>G