Allele Registry

Canonical Allele Identifier: PA2830322973

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000171232

RCV000644992

ClinVar Variation:

191056

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Ile685Val	CA235924 NM_173087.2:c.2053A>G