ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916070397
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000593477
RCV000818527
RCV002272299
ClinVar Variation:
500851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Ala1813Thr
CA404333762
NM_023035.3:c.5437G>A