Canonical Allele Identifier: PA645471059
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 383841
ClinVar RCV Id: RCV000427392

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003679.2:p.Val165Leu
CA16608929
NM_003688.3:c.493G>C
CA412998977
NM_003688.3:c.493G>T