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_016864818.1:p.Gln716His	CA359498818 XM_017009329.1:c.2148A>C CA359498824 XM_017009329.1:c.2148A>T