Allele Registry

Canonical Allele Identifier: PA645452273

Gene: CAPN3 HGNC NCBI

ClinVar Variation Id: 289752

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Lys250Arg	CA7511103 NM_000070.3:c.749A>G