Canonical Allele Identifier: PA2830322626
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281011
ClinVar RCV Id: RCV000375518 RCV000644989 RCV003144189
ClinVar Variation Id: 990249
ClinVar RCV Id: RCV001278232
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775110.1:p.Gly599Arg
CA7511704
NM_173087.2:c.1795G>A
CA392001498
NM_173087.2:c.1795G>C