Allele Registry

Canonical Allele Identifier: PA2830324266

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000116542

RCV000489478

RCV001814062

RCV003474720

ClinVar Variation:

128570

HGVS (amino-acid)	Matching Registered Transcripts
NP_775112.1:p.Arg83Gln	CA345536 NM_173089.2:c.248G>A