Allele Registry

Canonical Allele Identifier: PA175354

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000150219

RCV000618959

RCV002514879

ClinVar Variation:

162809

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Glu377Asp	CA175352 NM_001232.4:c.1131A>T CA341766293 NM_001232.4:c.1131A>C