Allele Registry

Canonical Allele Identifier: PA2829993145

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000311434

RCV000339965

RCV000408139

ClinVar Variation:

286218

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Glu608Asp	CA7511573 NM_024344.1:c.1824G>C CA392000749 NM_024344.1:c.1824G>T