ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830324535
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
965655
ClinVar RCV Id:
RCV001240159
RCV002480792
RCV004034640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775113.1:p.Leu38Phe
CA7511712
NM_173090.1:c.112C>T