ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916070563
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426943
ClinVar RCV Id:
RCV000488982
RCV000624453
RCV001364368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg2074Gln
CA9239431
NM_023035.3:c.6221G>A