Allele Registry

Canonical Allele Identifier: PA916066016

Gene: CAPN3 HGNC NCBI

ClinVar RCV:

RCV000359000

RCV000819248

ClinVar Variation:

282623

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Gly234Arg	CA10604244 NM_173087.2:c.700G>A CA391998189 NM_173087.2:c.700G>C