ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830322636
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045091
ClinVar RCV Id:
RCV001349440
RCV003318684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Leu602Val
CA392001517
NM_173087.2:c.1804C>G