Canonical Allele Identifier: PA2825593332
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 383841
ClinVar RCV Id: RCV000427392

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001119527.1:p.Val165Leu
CA16608929
NM_001126055.2:c.493G>C
CA412998977
NM_001126055.2:c.493G>T