ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916069860
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450171
ClinVar RCV Id:
RCV000519829
RCV001853632
RCV002227178
RCV003492089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Ile712Met
CA404344180
NM_023035.3:c.2136C>G