Allele Registry

Canonical Allele Identifier: PA2825593405

Gene: CASK HGNC NCBI

ClinVar RCV:

RCV000145413

RCV000494524

RCV002247536

RCV003764883

ClinVar Variation:

158084

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119527.1:p.Arg255His	CA251025 NM_001126055.2:c.764G>A