Allele Registry

Canonical Allele Identifier: PA891846565

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000687264

RCV002485608

ClinVar Variation:

567245

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Arg18Gln	CA391994052 NM_000070.3:c.53G>A