ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830322420
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289674
ClinVar RCV Id:
RCV000333524
RCV001081033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg500His
CA7511454
NM_173087.2:c.1499G>A