Allele Registry

Canonical Allele Identifier: PA645467349

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000497364

RCV000618128

RCV002526063

ClinVar Variation:

427946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Tyr55Cys	CA341767114 NM_001232.4:c.164A>G