Allele Registry

Canonical Allele Identifier: PA175357

Gene: CASQ2 HGNC NCBI

ClinVar Allele:

172473

ClinVar RCV:

RCV000150220

RCV000617384

RCV000766689

RCV001096938

RCV001170441

RCV002516015

ClinVar Variation:

162810

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Asp310Asn	CA175355 NM_001232.4:c.928G>A