Allele Registry

Canonical Allele Identifier: PA2830024748

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000323826

RCV001068856

RCV003463771

ClinVar Variation:

288404

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Glu217Lys	CA7511092 NM_024344.1:c.649G>A