Allele Registry

Canonical Allele Identifier: PA301938

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000170910

RCV000618569

RCV002492704

RCV002516550

RCV003343669

ClinVar Variation:

190755

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Pro308Leu	CA301936 NM_001232.4:c.923C>T