Canonical Allele Identifier: PA2830323605
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281011
ClinVar Variation Id: 990249
ClinVar RCV Id: RCV001278232

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775111.1:p.Gly179Arg
CA7511704
NM_173088.2:c.535G>A
CA392001498
NM_173088.2:c.535G>C