Allele Registry

Canonical Allele Identifier: PA2830024739

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

488339

ClinVar RCV:

RCV000597389

RCV000673077

RCV002509457

RCV003471951

ClinVar Variation:

496915

HGVS (amino-acid)	Matching Registered Transcripts
NP_077320.1:p.Gly214Ser	CA7511089 NM_024344.1:c.640G>A