Allele Registry

Canonical Allele Identifier: PA096912

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000002229

ClinVar Variation:

2147

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Ala1246Gly	CA252123 NM_133433.4:c.3737C>G