Allele Registry

Canonical Allele Identifier: PA133695

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000037132

RCV002513461

RCV003343611

RCV004018828

ClinVar Variation:

44156

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Asp383Gly	CA133693 NM_001232.4:c.1148A>G