Canonical Allele Identifier: PA2580534791
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1711379
ClinVar RCV Id: RCV002292895
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Met248Val
CA391998282
NM_173087.2:c.742A>G