Allele Registry

Canonical Allele Identifier: PA645467384

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000256223

ClinVar Variation:

265850

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Lys180Arg	CA10588840 NM_001232.4:c.539A>G