Allele Registry

Canonical Allele Identifier: PA645452254

Gene: CAPN3 HGNC NCBI

ClinVar Allele:

266860

ClinVar RCV:

RCV000359000

RCV000819248

ClinVar Variation:

282623

HGVS (amino-acid)	Matching Registered Transcripts
NP_000061.1:p.Gly234Arg	CA10604244 NM_000070.3:c.700G>A CA391998189 NM_000070.3:c.700G>C