ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826105249
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000494232
RCV000764180
RCV001212290
RCV004023314
ClinVar Variation:
430288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Pro1138Arg
CA9240329
NM_001174080.2:c.3413C>G