ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139763659
Gene: CAV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001071606
ClinVar Variation:
864417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203123.1:p.Val44Ala
CA351663147
NM_033337.3:c.131T>C