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.Gln2046His	CA359508962 XM_005248282.3:c.6138G>C CA359508963 XM_005248282.3:c.6138G>T