ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830321862
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281254
ClinVar RCV Id:
RCV000389096
RCV000711013
RCV003463741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg307Trp
CA7511239
NM_173087.2:c.919C>T