Allele Registry

Canonical Allele Identifier: PA2829993132

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000354372

RCV000727197

RCV000763349

RCV003330627

RCV003475918

ClinVar Variation:

289372

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Ser600Leu	CA7511567 NM_024344.1:c.1799C>T