Allele Registry

Canonical Allele Identifier: PA172671

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000146552

RCV001157505

ClinVar Variation:

99925

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Asp864Glu	CA172669 NM_133433.4:c.2592T>A CA359502920 NM_133433.4:c.2592T>G