Allele Registry

Canonical Allele Identifier: PA301896

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000170887

RCV002281993

RCV002336399

RCV002485070

RCV002517643

RCV003338438

ClinVar Variation:

190741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Ile168Thr	CA301894 NM_001232.4:c.503T>C