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: CASK HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000502315.1:p.Trp248Cys	CA412996788 ENST00000675354.1:c.744G>T CA412996789 ENST00000675354.1:c.744G>C