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: PNKP HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000473137.1:p.Val394Leu	CA406878718 ENST00000600910.5:c.1180G>T CA406878719 ENST00000600910.5:c.1180G>C