ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA215220
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8294
ClinVar RCV Id:
RCV000008792
RCV000024430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Ala85Thr
CA215218
NM_033337.3:c.253G>A