Allele Registry

Canonical Allele Identifier: PA2830322281

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

98316

ClinVar RCV:

RCV000280277

RCV000790779

RCV002271401

RCV002498373

RCV003474672

ClinVar Variation:

92405

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Ser431Gly	CA220341 NM_173087.2:c.1291A>G