Allele Registry

Canonical Allele Identifier: PA301915

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000170896

RCV002415723

RCV003343668

RCV003525867

ClinVar Variation:

190748

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Trp361Ser	CA301913 NM_001232.4:c.1082G>C