ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830322481
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166791
ClinVar RCV Id:
RCV000174442
RCV000790649
RCV003114302
RCV003474805
RCV004532716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Gly519Trp
CA233622
NM_173087.2:c.1555G>T