Canonical Allele Identifier: PA2830322124
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283991
ClinVar RCV Id: RCV000269452 RCV000725372 RCV001814145 RCV003475903
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Arg392Trp
CA7511318
NM_173087.2:c.1174C>T