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
NP_056199.2:p.Ile347Leu	CA359483719 NM_015384.5:c.1039A>T CA359483725 NM_015384.5:c.1039A>C