Allele Registry

Canonical Allele Identifier: PA2830024702

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

269819

ClinVar RCV:

RCV000396191

ClinVar Variation:

285582

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Ser194Phe	CA10605165 NM_024344.1:c.581C>T