Allele Registry

Canonical Allele Identifier: PA916074249

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000537811

RCV002282221

RCV002491061

RCV003144340

RCV003476295

ClinVar Variation:

468639

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Gly367Ser	CA7511243 NM_024344.1:c.1099G>A