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_011512316.1:p.Leu946Phe	CA359505885 XM_011514014.1:c.2838G>C CA359505892 XM_011514014.1:c.2838G>T