Allele Registry

Canonical Allele Identifier: PA347494

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000201045

RCV001781586

RCV001814106

RCV003330572

RCV003474971

ClinVar Variation:

217151

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Arg49His	CA347493 NM_000070.3:c.146G>A