ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830324160
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468648
ClinVar RCV Id:
RCV000542626
RCV000723534
RCV002476173
RCV004538015
RCV003476296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775112.1:p.Asp42Gly
CA7511744
NM_173089.2:c.125A>G