Canonical Allele Identifier: PA095424
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289644
ClinVar RCV Id: RCV000350336 RCV000517354 RCV002504018 RCV002509353 RCV003475920 RCV004535436
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Arg489Gln
CA7511363
NM_000070.3:c.1466G>A