ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916065929
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284468
ClinVar RCV Id:
RCV000354989
RCV001004990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Ile178Thr
CA10604803
NM_173087.2:c.533T>C