ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829993482
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281081
ClinVar RCV Id:
RCV000410341
RCV000723527
RCV002265720
RCV001824134
RCV002288958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Asp747Asn
CA7511784
NM_024344.1:c.2239G>A