Canonical Allele Identifier: PA645452268
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290267
ClinVar RCV Id: RCV000313399 RCV001240554
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000061.1:p.Arg242Lys
CA7511098
NM_000070.3:c.725G>A