Allele Registry

Canonical Allele Identifier: PA3057478942

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV005043295

ClinVar Variation:

3592258

HGVS (amino-acid)	Matching Registered Transcripts
NP_597677.2:p.Glu778Asp	CA3236152 NM_133433.4:c.2334A>C CA359500673 NM_133433.4:c.2334A>T