ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA233567
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166765
ClinVar RCV Id:
RCV000693394
RCV000723815
RCV002362804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg2166His
CA233565
NM_001127221.2:c.6497G>A