ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658678026
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468644
ClinVar RCV Id:
RCV000546918
RCV000734564
RCV002483453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Val555Ile
CA7511461
NM_000070.3:c.1663G>A