ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825594945
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8487
ClinVar RCV Id:
RCV000009008
RCV001533156
RCV002512926
RCV003231095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg192Gln
CA254415
NM_001127222.2:c.575G>A