ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829993344
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2098865
ClinVar RCV Id:
RCV003031152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ser693Asn
CA392001549
NM_024344.1:c.2078G>A