Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: NIPBL HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005248339.2:p.Leu382Phe	CA359495801 XM_005248282.3:c.1146G>C CA359495805 XM_005248282.3:c.1146G>T