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
NP_001119527.1:p.Asp807Glu	CA412989943 NM_001126055.2:c.2421C>G CA412989945 NM_001126055.2:c.2421C>A