Canonical Allele Identifier: PA2573160820
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1516030
ClinVar RCV Id: RCV002048667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Thr689Ile
CA392001489
NM_000070.3:c.2066C>T