ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830322318
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
968561
ClinVar RCV Id:
RCV001243724
RCV001580576
RCV003145477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg445Gln
CA7511367
NM_173087.2:c.1334G>A