ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916070130
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_075461.2:p.Glu1267Lys
CA404340598
NM_023035.3:c.3799G>A