Allele Registry

Canonical Allele Identifier: PA645467427

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000219232

RCV002517467

ClinVar Variation:

227209

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Asp378Glu	CA1023611 NM_001232.4:c.1134T>A CA341766286 NM_001232.4:c.1134T>G