Allele Registry

Canonical Allele Identifier: PA645466903

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000497520

RCV003133280

ClinVar Variation:

431862

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Gln425Glu	CA359486221 NM_133433.4:c.1273C>G