Canonical Allele Identifier: PA2580104561
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2155444
ClinVar RCV Id: RCV003072340

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Cys697Ser
CA269852732
NM_000070.3:c.2090G>C
CA392001534
NM_000070.3:c.2089T>A