Allele Registry

Canonical Allele Identifier: PA252124

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000002229

ClinVar Variation:

2147

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Ala1246Gly	CA252123 NM_015384.5:c.3737C>G