Canonical Allele Identifier: PA2830322252
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 553852
ClinVar RCV Id: RCV000669378 RCV003140065 RCV003235338 RCV003472115
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Glu419del
CA7511349
NM_173087.2:c.1257_1259del