Allele Registry

Canonical Allele Identifier: PA097247

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000002222

ClinVar Variation:

2140

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Tyr2430Cys	CA252115 NM_133433.4:c.7289A>G