ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825017854
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1925279
ClinVar RCV Id:
RCV002618132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Pro245Ser
CA391998261
NM_000070.3:c.733C>T