Allele Registry

Canonical Allele Identifier: PA236667

Gene: CASQ2 HGNC NCBI

ClinVar RCV:

RCV000171631

RCV001102335

RCV002285273

RCV002326939

RCV002485093

RCV002515246

RCV003488420

ClinVar Variation:

191439

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Asp396Asn	CA236665 NM_001232.4:c.1186G>A