Allele Registry

Canonical Allele Identifier: PA2830024482

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000687264

RCV002485608

ClinVar Variation:

567245

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Arg18Gln	CA391994052 NM_024344.1:c.53G>A