ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916065974
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420001
ClinVar RCV Id:
RCV000480853
RCV000528940
RCV003476161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Asn198Ser
CA7511066
NM_173087.2:c.593A>G