ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573301616
Gene: CAV3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1489175
ClinVar RCV Id:
RCV001978237
RCV003490996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Thr51Ile
CA351663181
NM_033337.3:c.152C>T