Allele Registry

Canonical Allele Identifier: PA346853

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

190202

ClinVar RCV:

RCV000173055

RCV000710093

RCV003114322

RCV003462272

ClinVar Variation:

193037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Arg49Cys	CA346852 NM_000070.3:c.145C>T