ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825597387
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542820
ClinVar RCV Id:
RCV000653321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Glu1263Lys
CA404340598
NM_001127222.2:c.3787G>A