ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830323636
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_775111.1:p.Ser187Asn
CA392001549
NM_173088.2:c.560G>A