Allele Registry

Canonical Allele Identifier: PA645452890

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000324676

RCV000525491

ClinVar Variation:

290334

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Asp707His	CA10606740 NM_000070.3:c.2119G>C