Canonical Allele Identifier: PA341477
Gene: CAPN3 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077320.1:p.Trp360Cys
CA341475
NM_024344.1:c.1080G>C
CA391999018
NM_024344.1:c.1080G>T