ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830322119
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000345099
RCV000725670
RCV003463759
ClinVar Variation:
285470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg389Cys
CA7511316
NM_173087.2:c.1165C>T