Canonical Allele Identifier: PA241129
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 194912
ClinVar RCV Id: RCV000175388 RCV001117730
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Met700Thr
CA241128
NM_000070.3:c.2099T>C